2481 lines
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Entry
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- *590040 - TRANSFER RNA, MITOCHONDRIAL, HISTIDINE; MTTH
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- OMIM
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<p>
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<span class="h4">*590040</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/590040">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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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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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=ENSG00000210176;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-TH" 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=4564" 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=590040" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000210176;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=590040" 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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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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<div><a href="https://www.proteinatlas.org/search/MT-TH" 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-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 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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<div><a href="http://biogps.org/#goto=genereport&id=4564" 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=ENSG00000210176;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-TH" 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-TH" 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+4564" 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-TH" 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:4564" 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/4564" 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>
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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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<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:7487" 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://medlineplus.gov/genetics/gene/mt-th" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=590040[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=590040[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/ENSG00000210176" 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-TH" 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-TH" 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-TH&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/PA31290" 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 class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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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 class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:7487" 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:102485" 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-TH#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:102485" 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/4564/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=4564" 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 style="display: table-cell;">Cellular Pathways</div>
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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:4564" 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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<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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 472316006<br />
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">ICD+</a>
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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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590040
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</span>
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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, HISTIDINE; MTTH
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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tRNA-HIS, MITOCHONDRIAL
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<div>
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<br />
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MT-TH" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MT-TH</a></em></strong>
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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 class="mim-text-font">
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<p>The mitochondrial tRNA for histidine is encoded by nucleotides 12138-12206.</p>
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<br />
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<a id="allelicVariants" class="mim-anchor"></a>
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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>4 Selected Examples</a>):</strong>
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<a href="/allelicVariants/590040" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=590040[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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<strong>.0001 CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL</strong>
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<span class="mim-text-font">
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CARDIOMYOPATHY, HYPERTROPHIC, MITOCHONDRIAL, INCLUDED
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MTTH, 12192G-A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs3134560 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3134560;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=rs3134560" 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=rs3134560" 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=RCV000010231 OR RCV000010232 OR RCV000851036" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010231, RCV000010232, RCV000851036" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010231...</a>
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<p><a href="#4" class="mim-tip-reference" title="Shin, W. S., Tanaka, M., Suzuki, J., Hemmi, C., Toyo-oka, T. <strong>A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy.</strong> Am. J. Hum. Genet. 67: 1617-1620, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11038324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11038324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11038324[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/10.1086/316896" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11038324">Shin et al. (2000)</a> studied a 60-year-old Japanese man who for 10 years had had manifestations of dilated cardiomyopathy. His mother and younger brother were similarly affected. Endomyocardial biopsy demonstrated marked loss or disruption of sarcomeres and massive accumulation of mitochondria of various sizes. In the tRNA of both brothers, a G-to-A transition was found at position 12192 in the MTTH gene. The mutation was located 2 bp from the 3-prime end of the T-psi-C loop of the tRNA. Because the mutation added an A:T basepair and shortened the loop itself, it was thought to affect mitochondrial function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11038324" 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>Searching for the same mutation, <a href="#4" class="mim-tip-reference" title="Shin, W. S., Tanaka, M., Suzuki, J., Hemmi, C., Toyo-oka, T. <strong>A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy.</strong> Am. J. Hum. Genet. 67: 1617-1620, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11038324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11038324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11038324[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/10.1086/316896" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11038324">Shin et al. (2000)</a> screened 126 patients with hypertrophic cardiomyopathy, 55 patients with dilated cardiomyopathy, and 168 control subjects without cardiac disease. They identified 4 additional patients with the 12192G-A substitution. One had hypertrophic cardiomyopathy and the mother had cardiomyopathy. The second had asymptomatic hypertrophic cardiomyopathy; the third had dilated cardiomyopathy with frequent premature ventricular contractions; and the fourth had dilated cardiomyopathy with heart failure. No control subjects had the mutation. All 5 subjects with the 12192G-A mutation showed homoplasmy. In addition, they shared an A-to-T substitution at position 16318 in the D-loop, which was not detected in other patients with cardiomyopathy or in subjects without cardiomyopathy. These findings strongly supported the close evolutionary relationship of the 2 mtDNA changes in these patients, as well as a single origin of the 12192G-A mutation. All 5 patients reported by <a href="#4" class="mim-tip-reference" title="Shin, W. S., Tanaka, M., Suzuki, J., Hemmi, C., Toyo-oka, T. <strong>A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy.</strong> Am. J. Hum. Genet. 67: 1617-1620, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11038324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11038324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11038324[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/10.1086/316896" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11038324">Shin et al. (2000)</a> showed no evidence of neurologic abnormalities or of diabetes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11038324" 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="#3" class="mim-tip-reference" title="Mimaki, M., Ikota, A., Sato, A., Komaki, H., Akanuma, J., Nonaka, I., Goto, Y. <strong>A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy.</strong> J. Hum. Genet. 48: 47-50, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12560876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12560876</a>] [<a href="https://doi.org/10.1007/s100380300005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12560876">Mimaki et al. (2003)</a> reported a male patient with cardiomyopathy and Leber hereditary optic neuropathy (LHON; <a href="/entry/535000">535000</a>) who had the 12192G-A mutation as well as the 11778G-A mutation in the ND4 gene (<a href="/entry/516003#0001">516003.0001</a>), which is one of the most common mutations found in LHON patients. Because no case of LHON presenting with cardiomyopathy had previously been reported, the findings suggested that this was an instance of double pathogenic mitochondrial DNA mutations associated either synergistically or concomitantly with 2 different clinical manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12560876" 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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<strong>.0002 PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434473 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434473;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=rs121434473" 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=rs121434473" 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=RCV000010233 OR RCV004691089" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010233, RCV004691089" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010233...</a>
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<p>In a male patient with pigmentary retinopathy with visual loss, bilateral sensorineural deafness, muscle hypotrophy, testicular dysfunction, and ataxia, <a href="#1" class="mim-tip-reference" title="Crimi, M., Galbiati, S., Perini, M. P., Bordoni, A., Malferrari, G., Sciacco, M., Biunno, I., Strazzer, S., Moggio, M., Bresolin, N., Comi, G. P. <strong>A mitochondrial tRNA(his) gene mutation causing pigmentary retinopathy and neurosensorial deafness.</strong> Neurology 60: 1200-1203, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12682337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12682337</a>] [<a href="https://doi.org/10.1212/01.wnl.0000055865.30580.39" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12682337">Crimi et al. (2003)</a> identified a heteroplasmic 12183G-A mutation in the MTTH gene. The mutation occurred in a highly conserved region of the T-psi-C stem of the tRNA. The clinical course was progressive, with visual loss beginning at age 7 years, hearing loss at age 11 years, and muscle weakness, ataxia, dysarthria, and testicular dysfunction apparent by age 20 years. Brain imaging showed cerebellar hypotrophy and bilateral basal ganglia calcifications. The patient's sister had retinopathy and sensorineural hypoacusis, whereas their mother had bilateral cataracts and audiometric defects; both also carried the 12183G-A mutation. <a href="#1" class="mim-tip-reference" title="Crimi, M., Galbiati, S., Perini, M. P., Bordoni, A., Malferrari, G., Sciacco, M., Biunno, I., Strazzer, S., Moggio, M., Bresolin, N., Comi, G. P. <strong>A mitochondrial tRNA(his) gene mutation causing pigmentary retinopathy and neurosensorial deafness.</strong> Neurology 60: 1200-1203, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12682337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12682337</a>] [<a href="https://doi.org/10.1212/01.wnl.0000055865.30580.39" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12682337">Crimi et al. (2003)</a> noted that the gradient of clinical severity reflected the degree of mutation heteroplasmy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12682337" 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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<strong>.0003 MERRF/MELAS OVERLAP SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434474 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434474;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=rs121434474" 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=rs121434474" 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=RCV000010234 OR RCV000851013 OR RCV002247294" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010234, RCV000851013, RCV002247294" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010234...</a>
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<p>In a patient with MELAS syndrome (<a href="/entry/540000">540000</a>) which progressed to MERRF syndrome (<a href="/entry/545000">545000</a>), <a href="#2" class="mim-tip-reference" title="Melone, M. A. B., Tessa, A., Petrini, S., Lus, G., Sampaolo, S., di Fede, G., Santorelli, F. M., Cotrufo, R. <strong>Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.</strong> Arch. Neurol. 61: 269-272, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14967777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14967777</a>] [<a href="https://doi.org/10.1001/archneur.61.2.269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14967777">Melone et al. (2004)</a> identified a heteroplasmic 12147G-A transition in the MTTH gene. At age 20 years, the patient experienced sudden migrainous headache and vomiting, followed by left hemiparesis and lateral homonymous hemianopia, consistent with MELAS. Seizures also occurred. At age 25 years, he developed myoclonus and ataxia, suggesting MERRF syndrome. His mother had shown similar stroke-like episodes and had died at age 36 years. Muscle biopsy of the proband showed abnormal mitochondrial proliferation and COX-negative fibers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14967777" 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="#5" class="mim-tip-reference" title="Taylor, R. W., Schaefer, A. M., McDonnell, M. T., Petty, R. K. H., Thomas, A. M., Blakely, E. L., Hayes, C. M., McFarland, R., Turnbull, D. M. <strong>Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(his) gene.</strong> Neurology 62: 1420-1423, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15111688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15111688</a>] [<a href="https://doi.org/10.1212/01.wnl.0000120667.77372.46" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15111688">Taylor et al. (2004)</a> reported another patient with features consistent with MELAS and MERRF syndromes caused by a heteroplasmic 12147G-A mutation. At age 19 years, the previously healthy patient experienced 3 generalized seizures with left upper limb focal onset and headache. He had left extensor plantar response and developed a mild left hemiparesis the next day. Eight days later, he was found collapsed with fixed dilated pupils, and CT scans showed midline shift and hydrocephalus. He recovered but 3 years later remained fatigued and apathetic with cognitive impairment. He also had right-sided ptosis, bilateral optic atrophy, and abnormal gait. Muscle biopsy showed ragged red fibers with decreased respiratory chain function and an 86% mutant load. The mutation was not detected in the patient's mother or other female relatives, suggesting a de novo event. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15111688" 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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<strong>.0004 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906733 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906733;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=rs387906733" 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=rs387906733" 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=RCV000022899 OR RCV000851039 OR RCV003319172" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022899, RCV000851039, RCV003319172" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022899...</a>
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<p>In affected members of a large 5-generation Han Chinese family with maternally inherited nonsyndromic adult-onset hearing loss (<a href="/entry/500008">500008</a>), <a href="#6" class="mim-tip-reference" title="Yan, X., Wang, X., Wang, Z., Sun, S., Chen, G., He, Y., Mo, J. Q., Li, R., Jiang, P., Lin, Q., Sun, M., Li, W., Bai, Y., Zhang, J., Zhu, Y., Lu, J., Yan, Q., Li, H., Guan, M.-X. <strong>Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNA-His gene.</strong> J. Med. Genet. 48: 682-690, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21931169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21931169</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21931169">Yan et al. (2011)</a> identified a heteroplasmic 12201T-C transition in the MTTH gene, affecting the acceptor stem of tRNA-His. The mutation was not found in 342 Han Chinese controls. There was wide variability in age at onset and severity, which correlated with mutation load, but the average age at onset was 29 years. Lymphoblastoid cell lines from 3 mutation carriers showed decreased levels of MTTH mRNA (about 25% of normal) as well as about 50% reduction in mitochondrial translation products compared to controls. Overall oxygen consumption of these cells was about 65% of normal, indicating defective respiration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21931169" 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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Crimi, M., Galbiati, S., Perini, M. P., Bordoni, A., Malferrari, G., Sciacco, M., Biunno, I., Strazzer, S., Moggio, M., Bresolin, N., Comi, G. P.
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<strong>A mitochondrial tRNA(his) gene mutation causing pigmentary retinopathy and neurosensorial deafness.</strong>
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Neurology 60: 1200-1203, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12682337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12682337</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12682337" 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/10.1212/01.wnl.0000055865.30580.39" target="_blank">Full Text</a>]
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Melone, M. A. B., Tessa, A., Petrini, S., Lus, G., Sampaolo, S., di Fede, G., Santorelli, F. M., Cotrufo, R.
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<strong>Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.</strong>
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Arch. Neurol. 61: 269-272, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14967777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14967777</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14967777" 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/10.1001/archneur.61.2.269" target="_blank">Full Text</a>]
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Mimaki, M., Ikota, A., Sato, A., Komaki, H., Akanuma, J., Nonaka, I., Goto, Y.
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<strong>A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy.</strong>
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J. Hum. Genet. 48: 47-50, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12560876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12560876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12560876" 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/10.1007/s100380300005" target="_blank">Full Text</a>]
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Shin, W. S., Tanaka, M., Suzuki, J., Hemmi, C., Toyo-oka, T.
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<strong>A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy.</strong>
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Am. J. Hum. Genet. 67: 1617-1620, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11038324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11038324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11038324[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=11038324" 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/10.1086/316896" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Taylor2004" class="mim-anchor"></a>
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<div class="">
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Taylor, R. W., Schaefer, A. M., McDonnell, M. T., Petty, R. K. H., Thomas, A. M., Blakely, E. L., Hayes, C. M., McFarland, R., Turnbull, D. M.
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<strong>Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(his) gene.</strong>
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Neurology 62: 1420-1423, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15111688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15111688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15111688" 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/10.1212/01.wnl.0000120667.77372.46" target="_blank">Full Text</a>]
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<a id="Yan2011" class="mim-anchor"></a>
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Yan, X., Wang, X., Wang, Z., Sun, S., Chen, G., He, Y., Mo, J. Q., Li, R., Jiang, P., Lin, Q., Sun, M., Li, W., Bai, Y., Zhang, J., Zhu, Y., Lu, J., Yan, Q., Li, H., Guan, M.-X.
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<strong>Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNA-His gene.</strong>
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J. Med. Genet. 48: 682-690, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21931169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21931169</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21931169" 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/10.1136/jmedgenet-2011-100219" target="_blank">Full Text</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 : 10/26/2011
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Cassandra L. Kniffin - updated : 8/26/2005<br>Cassandra L. Kniffin - updated : 6/2/2004<br>Cassandra L. Kniffin - updated : 9/3/2003<br>Victor A. McKusick - updated : 2/11/2003<br>Victor A. McKusick - updated : 12/13/2000
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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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Victor A. McKusick : 3/2/1993
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carol : 11/19/2014
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terry : 10/27/2011<br>carol : 10/27/2011<br>ckniffin : 10/26/2011<br>wwang : 9/2/2005<br>ckniffin : 8/26/2005<br>carol : 8/2/2005<br>tkritzer : 6/3/2004<br>tkritzer : 6/3/2004<br>ckniffin : 6/2/2004<br>tkritzer : 9/9/2003<br>ckniffin : 9/3/2003<br>carol : 2/21/2003<br>tkritzer : 2/13/2003<br>terry : 2/11/2003<br>carol : 5/8/2002<br>mcapotos : 1/9/2001<br>mcapotos : 1/2/2001<br>terry : 12/13/2000<br>carol : 5/26/1993<br>carol : 5/17/1993<br>carol : 3/2/1993
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<strong>*</strong> 590040
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TRANSFER RNA, MITOCHONDRIAL, HISTIDINE; MTTH
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<em>Alternative titles; symbols</em>
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tRNA-HIS, MITOCHONDRIAL
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<strong><em>HGNC Approved Gene Symbol: MT-TH</em></strong>
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<strong>SNOMEDCT:</strong> 472316006;
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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 histidine is encoded by nucleotides 12138-12206.</p>
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<strong>ALLELIC VARIANTS</strong>
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<strong>4 Selected Examples):</strong>
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<strong>.0001 CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL</strong>
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CARDIOMYOPATHY, HYPERTROPHIC, MITOCHONDRIAL, INCLUDED
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MTTH, 12192G-A
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SNP: rs3134560,
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ClinVar: RCV000010231, RCV000010232, RCV000851036
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<p>Shin et al. (2000) studied a 60-year-old Japanese man who for 10 years had had manifestations of dilated cardiomyopathy. His mother and younger brother were similarly affected. Endomyocardial biopsy demonstrated marked loss or disruption of sarcomeres and massive accumulation of mitochondria of various sizes. In the tRNA of both brothers, a G-to-A transition was found at position 12192 in the MTTH gene. The mutation was located 2 bp from the 3-prime end of the T-psi-C loop of the tRNA. Because the mutation added an A:T basepair and shortened the loop itself, it was thought to affect mitochondrial function. </p><p>Searching for the same mutation, Shin et al. (2000) screened 126 patients with hypertrophic cardiomyopathy, 55 patients with dilated cardiomyopathy, and 168 control subjects without cardiac disease. They identified 4 additional patients with the 12192G-A substitution. One had hypertrophic cardiomyopathy and the mother had cardiomyopathy. The second had asymptomatic hypertrophic cardiomyopathy; the third had dilated cardiomyopathy with frequent premature ventricular contractions; and the fourth had dilated cardiomyopathy with heart failure. No control subjects had the mutation. All 5 subjects with the 12192G-A mutation showed homoplasmy. In addition, they shared an A-to-T substitution at position 16318 in the D-loop, which was not detected in other patients with cardiomyopathy or in subjects without cardiomyopathy. These findings strongly supported the close evolutionary relationship of the 2 mtDNA changes in these patients, as well as a single origin of the 12192G-A mutation. All 5 patients reported by Shin et al. (2000) showed no evidence of neurologic abnormalities or of diabetes. </p><p>Mimaki et al. (2003) reported a male patient with cardiomyopathy and Leber hereditary optic neuropathy (LHON; 535000) who had the 12192G-A mutation as well as the 11778G-A mutation in the ND4 gene (516003.0001), which is one of the most common mutations found in LHON patients. Because no case of LHON presenting with cardiomyopathy had previously been reported, the findings suggested that this was an instance of double pathogenic mitochondrial DNA mutations associated either synergistically or concomitantly with 2 different clinical manifestations. </p>
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<strong>.0002 PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS</strong>
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MTTH, 12183G-A
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SNP: rs121434473,
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ClinVar: RCV000010233, RCV004691089
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<p>In a male patient with pigmentary retinopathy with visual loss, bilateral sensorineural deafness, muscle hypotrophy, testicular dysfunction, and ataxia, Crimi et al. (2003) identified a heteroplasmic 12183G-A mutation in the MTTH gene. The mutation occurred in a highly conserved region of the T-psi-C stem of the tRNA. The clinical course was progressive, with visual loss beginning at age 7 years, hearing loss at age 11 years, and muscle weakness, ataxia, dysarthria, and testicular dysfunction apparent by age 20 years. Brain imaging showed cerebellar hypotrophy and bilateral basal ganglia calcifications. The patient's sister had retinopathy and sensorineural hypoacusis, whereas their mother had bilateral cataracts and audiometric defects; both also carried the 12183G-A mutation. Crimi et al. (2003) noted that the gradient of clinical severity reflected the degree of mutation heteroplasmy. </p>
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<strong>.0003 MERRF/MELAS OVERLAP SYNDROME</strong>
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MTTH, 12147G-A
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SNP: rs121434474,
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ClinVar: RCV000010234, RCV000851013, RCV002247294
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<p>In a patient with MELAS syndrome (540000) which progressed to MERRF syndrome (545000), Melone et al. (2004) identified a heteroplasmic 12147G-A transition in the MTTH gene. At age 20 years, the patient experienced sudden migrainous headache and vomiting, followed by left hemiparesis and lateral homonymous hemianopia, consistent with MELAS. Seizures also occurred. At age 25 years, he developed myoclonus and ataxia, suggesting MERRF syndrome. His mother had shown similar stroke-like episodes and had died at age 36 years. Muscle biopsy of the proband showed abnormal mitochondrial proliferation and COX-negative fibers. </p><p>Taylor et al. (2004) reported another patient with features consistent with MELAS and MERRF syndromes caused by a heteroplasmic 12147G-A mutation. At age 19 years, the previously healthy patient experienced 3 generalized seizures with left upper limb focal onset and headache. He had left extensor plantar response and developed a mild left hemiparesis the next day. Eight days later, he was found collapsed with fixed dilated pupils, and CT scans showed midline shift and hydrocephalus. He recovered but 3 years later remained fatigued and apathetic with cognitive impairment. He also had right-sided ptosis, bilateral optic atrophy, and abnormal gait. Muscle biopsy showed ragged red fibers with decreased respiratory chain function and an 86% mutant load. The mutation was not detected in the patient's mother or other female relatives, suggesting a de novo event. </p>
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<strong>.0004 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL</strong>
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MTTH, 12201T-C
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ClinVar: RCV000022899, RCV000851039, RCV003319172
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<p>In affected members of a large 5-generation Han Chinese family with maternally inherited nonsyndromic adult-onset hearing loss (500008), Yan et al. (2011) identified a heteroplasmic 12201T-C transition in the MTTH gene, affecting the acceptor stem of tRNA-His. The mutation was not found in 342 Han Chinese controls. There was wide variability in age at onset and severity, which correlated with mutation load, but the average age at onset was 29 years. Lymphoblastoid cell lines from 3 mutation carriers showed decreased levels of MTTH mRNA (about 25% of normal) as well as about 50% reduction in mitochondrial translation products compared to controls. Overall oxygen consumption of these cells was about 65% of normal, indicating defective respiration. </p>
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<strong>REFERENCES</strong>
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Crimi, M., Galbiati, S., Perini, M. P., Bordoni, A., Malferrari, G., Sciacco, M., Biunno, I., Strazzer, S., Moggio, M., Bresolin, N., Comi, G. P.
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<strong>A mitochondrial tRNA(his) gene mutation causing pigmentary retinopathy and neurosensorial deafness.</strong>
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Neurology 60: 1200-1203, 2003.
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[PubMed: 12682337]
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[Full Text: https://doi.org/10.1212/01.wnl.0000055865.30580.39]
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Melone, M. A. B., Tessa, A., Petrini, S., Lus, G., Sampaolo, S., di Fede, G., Santorelli, F. M., Cotrufo, R.
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<strong>Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.</strong>
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Arch. Neurol. 61: 269-272, 2004.
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[PubMed: 14967777]
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[Full Text: https://doi.org/10.1001/archneur.61.2.269]
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Mimaki, M., Ikota, A., Sato, A., Komaki, H., Akanuma, J., Nonaka, I., Goto, Y.
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<strong>A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy.</strong>
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J. Hum. Genet. 48: 47-50, 2003.
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[PubMed: 12560876]
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[Full Text: https://doi.org/10.1007/s100380300005]
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Shin, W. S., Tanaka, M., Suzuki, J., Hemmi, C., Toyo-oka, T.
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<strong>A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy.</strong>
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Am. J. Hum. Genet. 67: 1617-1620, 2000.
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[PubMed: 11038324]
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[Full Text: https://doi.org/10.1086/316896]
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Taylor, R. W., Schaefer, A. M., McDonnell, M. T., Petty, R. K. H., Thomas, A. M., Blakely, E. L., Hayes, C. M., McFarland, R., Turnbull, D. M.
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<strong>Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(his) gene.</strong>
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Neurology 62: 1420-1423, 2004.
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[PubMed: 15111688]
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[Full Text: https://doi.org/10.1212/01.wnl.0000120667.77372.46]
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Yan, X., Wang, X., Wang, Z., Sun, S., Chen, G., He, Y., Mo, J. Q., Li, R., Jiang, P., Lin, Q., Sun, M., Li, W., Bai, Y., Zhang, J., Zhu, Y., Lu, J., Yan, Q., Li, H., Guan, M.-X.
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<strong>Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNA-His gene.</strong>
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J. Med. Genet. 48: 682-690, 2011.
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[PubMed: 21931169]
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[Full Text: https://doi.org/10.1136/jmedgenet-2011-100219]
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Cassandra L. Kniffin - updated : 10/26/2011<br>Cassandra L. Kniffin - updated : 8/26/2005<br>Cassandra L. Kniffin - updated : 6/2/2004<br>Cassandra L. Kniffin - updated : 9/3/2003<br>Victor A. McKusick - updated : 2/11/2003<br>Victor A. McKusick - updated : 12/13/2000
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Victor A. McKusick : 3/2/1993
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carol : 11/19/2014<br>terry : 10/27/2011<br>carol : 10/27/2011<br>ckniffin : 10/26/2011<br>wwang : 9/2/2005<br>ckniffin : 8/26/2005<br>carol : 8/2/2005<br>tkritzer : 6/3/2004<br>tkritzer : 6/3/2004<br>ckniffin : 6/2/2004<br>tkritzer : 9/9/2003<br>ckniffin : 9/3/2003<br>carol : 2/21/2003<br>tkritzer : 2/13/2003<br>terry : 2/11/2003<br>carol : 5/8/2002<br>mcapotos : 1/9/2001<br>mcapotos : 1/2/2001<br>terry : 12/13/2000<br>carol : 5/26/1993<br>carol : 5/17/1993<br>carol : 3/2/1993
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