2715 lines
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Entry
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- *590095 - TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN; MTTW
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- OMIM
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<p>
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<span class="h4">*590095</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/590095">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000210117;t=-" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://mitomap.org/bin/view.pl/Main/SearchSite?search=MT-TW" class="mim-tip-hint" title="A curated repository of published and unpublished data on human mitochondrial DNA variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MITOMAP', 'domain': 'mitomap.org'})">MITOMAP</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=4578" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=590095" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000210117;t=-" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=590095" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/MT-TW" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</a>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=4578" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000210117;t=-" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=MT-TW" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=MT-TW" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+4578" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/MT-TW" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:4578" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4578" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:7501" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=590095[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=590095[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000210117" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=MT-TW" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=MT-TW" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MT-TW&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA31304" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:7501" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:102471" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/MT-TW#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:102471" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4578/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=4578" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4578" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 16851005, 29570005, 447292006<br />
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<strong>ICD10CM:</strong> G31.82<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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590095
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN; MTTW
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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tRNA-TRP, MITOCHONDRIAL
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MT-TW" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MT-TW</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The mitochondrial tRNA for tryptophan is encoded by nucleotides 5512-5576.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="allelicVariants" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span href="#mimAllelicVariantsFold" id="mimAllelicVariantsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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</span>
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<strong>6 Selected Examples</a>):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
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<div>
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<a href="/allelicVariants/590095" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=590095[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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</div>
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<div>
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<p />
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</div>
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<div>
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<div>
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<a id="0001" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0001 ENCEPHALOPATHY, MITOCHONDRIAL</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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MTTW, 5549G-A
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs199474671 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199474671;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs199474671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs199474671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010163" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010163" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010163</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with adult-onset dementia, chorea, cerebellar ataxia, deafness, and peripheral neuropathy, <a href="#2" class="mim-tip-reference" title="Nelson, I., Hanna, M. G., Alsanjari, N., Scaravilli, F., Morgan-Hughes, J. A., Harding, A. E. <strong>A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study.</strong> Ann. Neurol. 37: 400-403, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7695240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7695240</a>] [<a href="https://doi.org/10.1002/ana.410370317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7695240">Nelson et al. (1995)</a> identified a heteroplasmic 5549G-A transition in the MTTW gene. The mutation had a widespread distribution in autopsy tissues. Postmortem examination showed diffuse neuronal loss and gliosis throughout the brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7695240" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0002" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0002 ENCEPHALOPATHY, MITOCHONDRIAL</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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LEIGH SYNDROME, INCLUDED
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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MTTW, 1-BP INS, 5537T
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs199474672 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199474672;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs199474672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs199474672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010164 OR RCV000010165 OR RCV001268092" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010164, RCV000010165, RCV001268092" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010164...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family in which the proband had a progressive neurologic disorder and his brother died in infancy of Leigh syndrome (<a href="/entry/256000">256000</a>), <a href="#4" class="mim-tip-reference" title="Santorelli, F. M., Tanji, K., Sano, M., Shanske, S., El-Shahawi, M., Kranz-Eble, P., DiMauro, S., De Vivo, D. C. <strong>Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.</strong> Ann. Neurol. 42: 256-260, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9266739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9266739</a>] [<a href="https://doi.org/10.1002/ana.410420220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9266739">Santorelli et al. (1997)</a> identified a 1-bp insertion (5537insT) in the MTTW gene. Muscle biopsy from the proband showed subsarcolemmal proliferation of mitochondria and decreased activities of oxidative metabolism enzymes, in particular complex IV. The mutation was abundant in tissues from the proband and his brother (greater than 92%), and less abundant (42 to 89%) in 4 maternal relatives, 3 of whom had neuropsychiatric disturbances. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9266739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Tulinius, M., Moslemi, A.-R., Darin, N., Westerberg, B., Wiklund, L.-M., Holme, E., Oldfors, A. <strong>Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNA(Trp) gene.</strong> Neuropediatrics 34: 87-91, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12776230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12776230</a>] [<a href="https://doi.org/10.1055/s-2003-39607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12776230">Tulinius et al. (2003)</a> reported a boy with Leigh syndrome who had the 5537insT mutation. From infancy, he was irritable and had hypotonia. Later, neurologic features included nystagmus, optic atrophy, seizures, delayed motor development, and mental retardation. Skeletal muscle analysis showed a profound COX deficiency and complex I deficiency. The mutation was found in a high proportion (greater than 95%) in blood, liver, and muscle tissue of the patient, and in blood of the patient's mother (81%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12776230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs199474673 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199474673;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs199474673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs199474673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010166 OR RCV000850777 OR RCV002291209 OR RCV004696632" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010166, RCV000850777, RCV002291209, RCV004696632" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010166...</a>
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<p><a href="#5" class="mim-tip-reference" title="Silvestri, G., Rana, M., DiMuzio, A., Uncini, A., Tonali, P., Servidei, S. <strong>A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene.</strong> Neuromusc. Disord. 8: 291-295, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9673981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9673981</a>] [<a href="https://doi.org/10.1016/s0960-8966(98)00037-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9673981">Silvestri et al. (1998)</a> reported a family with a late-onset myopathy caused by a 5521G-A transition in the MTTW gene. A 68-year-old man had progressive bilateral ptosis and fatigue from the age of 50 years, and his mother and 1 brother were reportedly similarly affected. Muscle biopsy of the proband showed a mitochondrial myopathy with many COX-negative ragged-red fibers and severe COX deficiency. The mutation was heteroplasmic in muscle (98%), but absent in leukocytes. <a href="#5" class="mim-tip-reference" title="Silvestri, G., Rana, M., DiMuzio, A., Uncini, A., Tonali, P., Servidei, S. <strong>A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene.</strong> Neuromusc. Disord. 8: 291-295, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9673981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9673981</a>] [<a href="https://doi.org/10.1016/s0960-8966(98)00037-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9673981">Silvestri et al. (1998)</a> noted the differences from previously reported phenotypes caused by mutation in the MTTW gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9673981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs199474674 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199474674;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs199474674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs199474674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010167 OR RCV002247284" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010167, RCV002247284" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010167...</a>
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<p>In a girl with a neurogastrointestinal syndrome, <a href="#1" class="mim-tip-reference" title="Maniura-Weber, K., Taylor, R. W., Johnson, M. A., Chrzanowska-Lightowlers, Z., Morris, A. A. M., Charlton, C. P. J., Turnbull, D. M., Bindoff, L. A. <strong>A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.</strong> Europ. J. Hum. Genet. 12: 509-512, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054399</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054399">Maniura-Weber et al. (2004)</a> identified a 5532G-A transition in the MTTW gene. The patient presented at 1 year of age with recurrent vomiting and failure to thrive. Later in childhood she had leg discomfort, cognitive regression, seizures, and incontinence. Other features included sensorineural deafness, ptosis, ophthalmoplegia, pigmentary retinopathy, and constricted visual fields. She was a small child (below third percentile for height and weight), and continued to have feeding difficulties with constipation and diarrhea. Muscle biopsy showed COX-negative fibers and low activity of complexes I and IV. The mutation was present in muscle (92%), fibroblasts (37%), and blood (21%), and at low levels in blood from the patient's mother (7%) and unaffected brother (9%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906418 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906418;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906418" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906418" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010168 OR RCV004691087" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010168, RCV004691087" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010168...</a>
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<p>In a 13-year-old boy with a mitochondrial encephalocardiomyopathy, <a href="#3" class="mim-tip-reference" title="Sacconi, S., Salviati, L., Nishigaki, Y., Walker, W. F., Hernandez-Rosa, E., Trevisson, E., Delplace, S., Desnuelle, C., Shanske, S., Hirano, M., Schon, E. A., Bonilla, E., De Vivo, D. C., DiMauro, S., Davidson, M. M. <strong>A functionally dominant mitochondrial DNA mutation.</strong> Hum. Molec. Genet. 17: 1814-1820, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18337306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18337306</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18337306[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddn073" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18337306">Sacconi et al. (2008)</a> identified a heteroplasmic 5545C-T transition in the MTTW gene, which was present at unusually low levels (less than 25%) in affected tissues. In vitro functional expression studies in cybrid cell lines showed that the pathogenic threshold for the mutation was between 4 and 8%, suggesting a dominant mechanism of action. The mutation affects the central base of the anticodon triplet of tRNA-Trp, which may alter the codon specificity of the affected tRNA. The patient presented at age 5 months with hypertrophic cardiomyopathy, truncal hypotonia, and lactic acidosis. Skeletal muscle showed defective respiratory chain complex activity. He progressively lost acquired developmental milestones, developed seizures, and, at 3 years of age, he showed slowly progressive chorea. Brain MRI showed mild diffuse brain atrophy and bilateral hyperintensities in the putamen. At 13 years of age, he was microcephalic, hypotonic but hyperreflexic, ataxic and dysmetric, and had choreic movements. <a href="#3" class="mim-tip-reference" title="Sacconi, S., Salviati, L., Nishigaki, Y., Walker, W. F., Hernandez-Rosa, E., Trevisson, E., Delplace, S., Desnuelle, C., Shanske, S., Hirano, M., Schon, E. A., Bonilla, E., De Vivo, D. C., DiMauro, S., Davidson, M. M. <strong>A functionally dominant mitochondrial DNA mutation.</strong> Hum. Molec. Genet. 17: 1814-1820, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18337306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18337306</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18337306[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddn073" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18337306">Sacconi et al. (2008)</a> emphasized the unusual finding of a mitochondrial mutation that behaves like a true dominant allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18337306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906736 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906736;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000022907" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022907" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022907</a>
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<p>In a female infant with a fatal mitochondrial encephalomyopathy, <a href="#6" class="mim-tip-reference" title="Smits, P., Mattijssen, S., Morava, E., van den Brand, M., van den Brandt, F., Wijburg, F., Pruijn, G., Smeitink, J., Nijtmans, L., Rodenburg, R., van den Heuvel, L. <strong>Functional consequences of mitochondrial tRNA-Trp and tRNA-Arg mutations causing combined OXPHOS defects.</strong> Europ. J. Hum. Genet. 18: 324-329, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19809478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19809478</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19809478[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19809478">Smits et al. (2010)</a> identified a 5556G-A transition in the MTTW gene. The mutation occurred at a highly conserved nucleotide in the variable region of the tRNA-Trp structure. The patient had feeding problems from birth, and psychomotor regression was noted at age 7 months. She developed severe constipation and failure to thrive. At age 10 months, she was hypotonic and unable to sit without support, and laboratory studies showed lactic acidosis. She died of respiratory insufficiency at age 13 months. Patient fibroblasts and skeletal muscle showed severely decreased activities of mitochondrial respiratory complexes I, III, and IV (15-59% of control values). The mutant load was 92% in fibroblasts and 93% in skeletal muscle, whereas it was absent in the mother's blood. In vitro studies of patient cells showed a marked reduction in mitochondrial protein synthesis, and Northern blot analysis showed reduced levels of mutant tRNA-Trp (29-33%). In addition, gel electrophoresis indicated an abnormal conformation of the mutant protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19809478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<a id="1" class="mim-anchor"></a>
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<a id="Maniura-Weber2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Maniura-Weber, K., Taylor, R. W., Johnson, M. A., Chrzanowska-Lightowlers, Z., Morris, A. A. M., Charlton, C. P. J., Turnbull, D. M., Bindoff, L. A.
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<strong>A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.</strong>
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Europ. J. Hum. Genet. 12: 509-512, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054399</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201185" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Nelson1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nelson, I., Hanna, M. G., Alsanjari, N., Scaravilli, F., Morgan-Hughes, J. A., Harding, A. E.
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<strong>A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study.</strong>
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Ann. Neurol. 37: 400-403, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7695240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7695240</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7695240" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410370317" target="_blank">Full Text</a>]
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</p>
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<a id="3" class="mim-anchor"></a>
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<a id="Sacconi2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sacconi, S., Salviati, L., Nishigaki, Y., Walker, W. F., Hernandez-Rosa, E., Trevisson, E., Delplace, S., Desnuelle, C., Shanske, S., Hirano, M., Schon, E. A., Bonilla, E., De Vivo, D. C., DiMauro, S., Davidson, M. M.
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<strong>A functionally dominant mitochondrial DNA mutation.</strong>
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Hum. Molec. Genet. 17: 1814-1820, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18337306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18337306</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18337306[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18337306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddn073" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Santorelli1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Santorelli, F. M., Tanji, K., Sano, M., Shanske, S., El-Shahawi, M., Kranz-Eble, P., DiMauro, S., De Vivo, D. C.
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<strong>Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.</strong>
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Ann. Neurol. 42: 256-260, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9266739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9266739</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9266739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410420220" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Silvestri1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Silvestri, G., Rana, M., DiMuzio, A., Uncini, A., Tonali, P., Servidei, S.
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<strong>A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene.</strong>
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Neuromusc. Disord. 8: 291-295, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9673981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9673981</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9673981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0960-8966(98)00037-6" target="_blank">Full Text</a>]
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Smits2010" class="mim-anchor"></a>
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<p class="mim-text-font">
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Smits, P., Mattijssen, S., Morava, E., van den Brand, M., van den Brandt, F., Wijburg, F., Pruijn, G., Smeitink, J., Nijtmans, L., Rodenburg, R., van den Heuvel, L.
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<strong>Functional consequences of mitochondrial tRNA-Trp and tRNA-Arg mutations causing combined OXPHOS defects.</strong>
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Europ. J. Hum. Genet. 18: 324-329, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19809478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19809478</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19809478[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19809478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2009.169" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Tulinius2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tulinius, M., Moslemi, A.-R., Darin, N., Westerberg, B., Wiklund, L.-M., Holme, E., Oldfors, A.
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<strong>Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNA(Trp) gene.</strong>
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Neuropediatrics 34: 87-91, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12776230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12776230</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12776230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1055/s-2003-39607" target="_blank">Full Text</a>]
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</p>
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/21/2012
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 12/7/2009<br>Cassandra L. Kniffin - updated : 7/13/2004
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 3/2/1993
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 03/21/2012
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<span class="mim-text-font">
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ckniffin : 3/21/2012<br>wwang : 1/4/2010<br>wwang : 1/4/2010<br>ckniffin : 12/7/2009<br>terry : 3/30/2005<br>terry : 11/3/2004<br>tkritzer : 7/16/2004<br>ckniffin : 7/13/2004<br>carol : 5/26/1993<br>carol : 5/17/1993<br>carol : 3/2/1993
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<span class="mim-font">
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<strong>*</strong> 590095
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<div>
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<h3>
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<span class="mim-font">
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TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN; MTTW
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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tRNA-TRP, MITOCHONDRIAL
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<strong><em>HGNC Approved Gene Symbol: MT-TW</em></strong>
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<strong>SNOMEDCT:</strong> 16851005, 29570005, 447292006;
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<strong>ICD10CM:</strong> G31.82;
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>The mitochondrial tRNA for tryptophan is encoded by nucleotides 5512-5576.</p>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<p />
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<h4>
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<span class="mim-font">
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<strong>.0001 ENCEPHALOPATHY, MITOCHONDRIAL</strong>
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MTTW, 5549G-A
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<br />
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SNP: rs199474671,
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ClinVar: RCV000010163
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<span class="mim-text-font">
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<p>In a patient with adult-onset dementia, chorea, cerebellar ataxia, deafness, and peripheral neuropathy, Nelson et al. (1995) identified a heteroplasmic 5549G-A transition in the MTTW gene. The mutation had a widespread distribution in autopsy tissues. Postmortem examination showed diffuse neuronal loss and gliosis throughout the brain. </p>
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<span class="mim-font">
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<strong>.0002 ENCEPHALOPATHY, MITOCHONDRIAL</strong>
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LEIGH SYNDROME, INCLUDED
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MTTW, 1-BP INS, 5537T
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<br />
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SNP: rs199474672,
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ClinVar: RCV000010164, RCV000010165, RCV001268092
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<span class="mim-text-font">
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<p>In a family in which the proband had a progressive neurologic disorder and his brother died in infancy of Leigh syndrome (256000), Santorelli et al. (1997) identified a 1-bp insertion (5537insT) in the MTTW gene. Muscle biopsy from the proband showed subsarcolemmal proliferation of mitochondria and decreased activities of oxidative metabolism enzymes, in particular complex IV. The mutation was abundant in tissues from the proband and his brother (greater than 92%), and less abundant (42 to 89%) in 4 maternal relatives, 3 of whom had neuropsychiatric disturbances. </p><p>Tulinius et al. (2003) reported a boy with Leigh syndrome who had the 5537insT mutation. From infancy, he was irritable and had hypotonia. Later, neurologic features included nystagmus, optic atrophy, seizures, delayed motor development, and mental retardation. Skeletal muscle analysis showed a profound COX deficiency and complex I deficiency. The mutation was found in a high proportion (greater than 95%) in blood, liver, and muscle tissue of the patient, and in blood of the patient's mother (81%). </p>
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</span>
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<span class="mim-font">
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<strong>.0003 MYOPATHY, MITOCHONDRIAL</strong>
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<span class="mim-text-font">
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MTTW, 5521G-A
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<br />
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SNP: rs199474673,
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ClinVar: RCV000010166, RCV000850777, RCV002291209, RCV004696632
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<p>Silvestri et al. (1998) reported a family with a late-onset myopathy caused by a 5521G-A transition in the MTTW gene. A 68-year-old man had progressive bilateral ptosis and fatigue from the age of 50 years, and his mother and 1 brother were reportedly similarly affected. Muscle biopsy of the proband showed a mitochondrial myopathy with many COX-negative ragged-red fibers and severe COX deficiency. The mutation was heteroplasmic in muscle (98%), but absent in leukocytes. Silvestri et al. (1998) noted the differences from previously reported phenotypes caused by mutation in the MTTW gene. </p>
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<span class="mim-font">
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<strong>.0004 NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL</strong>
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MTTW, 5532G-A
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SNP: rs199474674,
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ClinVar: RCV000010167, RCV002247284
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<p>In a girl with a neurogastrointestinal syndrome, Maniura-Weber et al. (2004) identified a 5532G-A transition in the MTTW gene. The patient presented at 1 year of age with recurrent vomiting and failure to thrive. Later in childhood she had leg discomfort, cognitive regression, seizures, and incontinence. Other features included sensorineural deafness, ptosis, ophthalmoplegia, pigmentary retinopathy, and constricted visual fields. She was a small child (below third percentile for height and weight), and continued to have feeding difficulties with constipation and diarrhea. Muscle biopsy showed COX-negative fibers and low activity of complexes I and IV. The mutation was present in muscle (92%), fibroblasts (37%), and blood (21%), and at low levels in blood from the patient's mother (7%) and unaffected brother (9%). </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0005 ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL</strong>
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</span>
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MTTW, 5545C-T
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<br />
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SNP: rs387906418,
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ClinVar: RCV000010168, RCV004691087
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</span>
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<span class="mim-text-font">
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<p>In a 13-year-old boy with a mitochondrial encephalocardiomyopathy, Sacconi et al. (2008) identified a heteroplasmic 5545C-T transition in the MTTW gene, which was present at unusually low levels (less than 25%) in affected tissues. In vitro functional expression studies in cybrid cell lines showed that the pathogenic threshold for the mutation was between 4 and 8%, suggesting a dominant mechanism of action. The mutation affects the central base of the anticodon triplet of tRNA-Trp, which may alter the codon specificity of the affected tRNA. The patient presented at age 5 months with hypertrophic cardiomyopathy, truncal hypotonia, and lactic acidosis. Skeletal muscle showed defective respiratory chain complex activity. He progressively lost acquired developmental milestones, developed seizures, and, at 3 years of age, he showed slowly progressive chorea. Brain MRI showed mild diffuse brain atrophy and bilateral hyperintensities in the putamen. At 13 years of age, he was microcephalic, hypotonic but hyperreflexic, ataxic and dysmetric, and had choreic movements. Sacconi et al. (2008) emphasized the unusual finding of a mitochondrial mutation that behaves like a true dominant allele. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0006 ENCEPHALOMYOPATHY, MITOCHONDRIAL</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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MTTW, 5556G-A
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<br />
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SNP: rs387906736,
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ClinVar: RCV000022907
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<span class="mim-text-font">
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<p>In a female infant with a fatal mitochondrial encephalomyopathy, Smits et al. (2010) identified a 5556G-A transition in the MTTW gene. The mutation occurred at a highly conserved nucleotide in the variable region of the tRNA-Trp structure. The patient had feeding problems from birth, and psychomotor regression was noted at age 7 months. She developed severe constipation and failure to thrive. At age 10 months, she was hypotonic and unable to sit without support, and laboratory studies showed lactic acidosis. She died of respiratory insufficiency at age 13 months. Patient fibroblasts and skeletal muscle showed severely decreased activities of mitochondrial respiratory complexes I, III, and IV (15-59% of control values). The mutant load was 92% in fibroblasts and 93% in skeletal muscle, whereas it was absent in the mother's blood. In vitro studies of patient cells showed a marked reduction in mitochondrial protein synthesis, and Northern blot analysis showed reduced levels of mutant tRNA-Trp (29-33%). In addition, gel electrophoresis indicated an abnormal conformation of the mutant protein. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Maniura-Weber, K., Taylor, R. W., Johnson, M. A., Chrzanowska-Lightowlers, Z., Morris, A. A. M., Charlton, C. P. J., Turnbull, D. M., Bindoff, L. A.
|
|
<strong>A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.</strong>
|
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Europ. J. Hum. Genet. 12: 509-512, 2004.
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[PubMed: 15054399]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201185]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Nelson, I., Hanna, M. G., Alsanjari, N., Scaravilli, F., Morgan-Hughes, J. A., Harding, A. E.
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<strong>A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study.</strong>
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Ann. Neurol. 37: 400-403, 1995.
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[PubMed: 7695240]
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[Full Text: https://doi.org/10.1002/ana.410370317]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Sacconi, S., Salviati, L., Nishigaki, Y., Walker, W. F., Hernandez-Rosa, E., Trevisson, E., Delplace, S., Desnuelle, C., Shanske, S., Hirano, M., Schon, E. A., Bonilla, E., De Vivo, D. C., DiMauro, S., Davidson, M. M.
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<strong>A functionally dominant mitochondrial DNA mutation.</strong>
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Hum. Molec. Genet. 17: 1814-1820, 2008.
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[PubMed: 18337306]
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[Full Text: https://doi.org/10.1093/hmg/ddn073]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Santorelli, F. M., Tanji, K., Sano, M., Shanske, S., El-Shahawi, M., Kranz-Eble, P., DiMauro, S., De Vivo, D. C.
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<strong>Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.</strong>
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Ann. Neurol. 42: 256-260, 1997.
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[PubMed: 9266739]
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[Full Text: https://doi.org/10.1002/ana.410420220]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Silvestri, G., Rana, M., DiMuzio, A., Uncini, A., Tonali, P., Servidei, S.
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<strong>A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene.</strong>
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Neuromusc. Disord. 8: 291-295, 1998.
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[PubMed: 9673981]
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[Full Text: https://doi.org/10.1016/s0960-8966(98)00037-6]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Smits, P., Mattijssen, S., Morava, E., van den Brand, M., van den Brandt, F., Wijburg, F., Pruijn, G., Smeitink, J., Nijtmans, L., Rodenburg, R., van den Heuvel, L.
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<strong>Functional consequences of mitochondrial tRNA-Trp and tRNA-Arg mutations causing combined OXPHOS defects.</strong>
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Europ. J. Hum. Genet. 18: 324-329, 2010.
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[PubMed: 19809478]
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[Full Text: https://doi.org/10.1038/ejhg.2009.169]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Tulinius, M., Moslemi, A.-R., Darin, N., Westerberg, B., Wiklund, L.-M., Holme, E., Oldfors, A.
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<strong>Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNA(Trp) gene.</strong>
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Neuropediatrics 34: 87-91, 2003.
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[PubMed: 12776230]
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[Full Text: https://doi.org/10.1055/s-2003-39607]
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</p>
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Cassandra L. Kniffin - updated : 3/21/2012<br>Cassandra L. Kniffin - updated : 12/7/2009<br>Cassandra L. Kniffin - updated : 7/13/2004
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Victor A. McKusick : 3/2/1993
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carol : 03/21/2012<br>ckniffin : 3/21/2012<br>wwang : 1/4/2010<br>wwang : 1/4/2010<br>ckniffin : 12/7/2009<br>terry : 3/30/2005<br>terry : 11/3/2004<br>tkritzer : 7/16/2004<br>ckniffin : 7/13/2004<br>carol : 5/26/1993<br>carol : 5/17/1993<br>carol : 3/2/1993
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