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Entry
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- *590105 - TRANSFER RNA, MITOCHONDRIAL, VALINE; MTTV
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- OMIM
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<p>
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<span class="h4">*590105</span>
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<br />
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<strong>Table of Contents</strong>
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<nav>
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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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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/590105">Table View</a>
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<li role="presentation">
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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 id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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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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</a>
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</span>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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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/Location/View?db=core;g=ENSG00000210077;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-TV" 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=4577" 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=590105" 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>
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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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</span>
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</span>
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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=ENSG00000210077;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=590105" 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>
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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="mimProtein">
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<span class="panel-title">
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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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</span>
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</span>
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</div>
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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-TV" 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>
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</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="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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</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="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=4577" 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=ENSG00000210077;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-TV" 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-TV" 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+4577" 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-TV" 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:4577" 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/4577" 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>
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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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</a>
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</span>
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</span>
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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:7500" 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-tv" 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=590105[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>
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</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="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=590105[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/ENSG00000210077" 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-TV" 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-TV" 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-TV&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/PA31303" 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 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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</a>
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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:7500" 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:102472" 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-TV#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:102472" 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/4577/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=4577" 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-row">
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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:4577" 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> 717052002<br />
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">ICD+</a>
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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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590105
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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TRANSFER RNA, MITOCHONDRIAL, VALINE; MTTV
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</h3>
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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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<h4>
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<span class="mim-font">
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tRNA-VAL, MITOCHONDRIAL
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MT-TV" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MT-TV</a></em></strong>
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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 class="mim-text-font">
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<p>The mitochondrial tRNA for valine is encoded by nucleotides 1602-1670.</p>
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<br />
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<a id="molecularGenetics" class="mim-anchor"></a>
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<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<div class="mim-changed mim-change"><p><strong><em>Charcot-Marie-Tooth Disease, Axonal</em></strong>
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</p></div>
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<div class="mim-changed mim-change"><p>In an affected member of a large multigenerational Venezuelan family with a mitochondrial form of axonal Charcot-Marie-Tooth disease (CMTMA; <a href="/entry/500013">500013</a>), <a href="#1" class="mim-tip-reference" title="Fay, A., Garcia, Y., Margeta, M., Maharjan, S., Jurgensen, C., Briceno, J., Garcia, M., Yin, S., Bassaganyas, L., McMahon, T., Hou, Y.-M., Fu, Y.-H., Ptacek, L. J. <strong>A mitochondrial tRNA mutation causes axonal CMT in a large Venezuelan family.</strong> Ann. Neurol. 88: 830-842, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32715519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32715519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32715519[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/10.1002/ana.25854" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32715519">Fay et al. (2020)</a> identified a homoplasmic c.1661A-G transition in the MTTV gene, predicted to cause disruption of a base pair in the T-stem loop (<a href="#0003">590105.0003</a>). The mutation, which was found by next-generation sequencing of mtDNA, was subsequently found in 4 additional family members, including 1 clinically asymptomatic individual, all of whom were homoplasmic for the mutation. These 3 affected individuals also had multiple large mtDNA deletions that were not found in the asymptomatic carrier. Northern blot analysis of muscle derived from the 4 patients showed decreased levels of mt-tRNA(Val) mRNA compared to controls. Patient muscle tissue also showed reduced activities of multiple enzymes in the mitochondrial respiratory chain complex, including I+III and IV. The reduction in enzyme activity was greater in those who were more severely affected. <a href="#1" class="mim-tip-reference" title="Fay, A., Garcia, Y., Margeta, M., Maharjan, S., Jurgensen, C., Briceno, J., Garcia, M., Yin, S., Bassaganyas, L., McMahon, T., Hou, Y.-M., Fu, Y.-H., Ptacek, L. J. <strong>A mitochondrial tRNA mutation causes axonal CMT in a large Venezuelan family.</strong> Ann. Neurol. 88: 830-842, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32715519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32715519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32715519[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/10.1002/ana.25854" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32715519">Fay et al. (2020)</a> postulated that the mutation may impair mitochondrial translation or function of the mitoribosome, as well as possibly interfering with axonal transport of mitochondria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32715519" 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></div>
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<div class="mim-changed mim-change"><p><strong><em>Spastic Paraplegia</em></strong>
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</p></div>
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<div class="mim-changed mim-change"><p><a href="#4" class="mim-tip-reference" title="Shi, Y., Xie, J., Jiang, J., Yan, X., Chen, X., Hong, S., Liu, J., Xu, G., Su, H., Chen, W., Wang, N., Lin, X. <strong>A homoplasmic MT-TV mutation associated with mitochondrial inheritance of hereditary spastic paraplegia.</strong> Mov. Disord. 40: 168-173, 2025.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39468830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39468830</a>] [<a href="https://doi.org/10.1002/mds.30048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="39468830">Shi et al. (2025)</a> identified homoplasmy for the c.1661A-G transition (<a href="#0003">590105.0003</a>) in the MTTV gene in 10 family members from 3 generations of a Chinese family with mitochondrial spastic paraplegia (SPGM; <a href="/entry/500018">500018</a>). It appeared that the disease process displayed anticipation, with later generations exhibiting earlier age of onset. <a href="#4" class="mim-tip-reference" title="Shi, Y., Xie, J., Jiang, J., Yan, X., Chen, X., Hong, S., Liu, J., Xu, G., Su, H., Chen, W., Wang, N., Lin, X. <strong>A homoplasmic MT-TV mutation associated with mitochondrial inheritance of hereditary spastic paraplegia.</strong> Mov. Disord. 40: 168-173, 2025.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39468830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39468830</a>] [<a href="https://doi.org/10.1002/mds.30048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="39468830">Shi et al. (2025)</a> found that patients from later generations had a lower mtDNA copy number, suggesting that decreased mtDNA over generations may have contributed to earlier onset of disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39468830" 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></div>
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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>3 Selected Examples</a>):</strong>
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</span>
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</h4>
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<div>
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<a href="/allelicVariants/590105" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=590105[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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<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 ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS</strong>
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<div style="float: left;">
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MTTV, 1606A-G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs199476143 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199476143;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=rs199476143" 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=rs199476143" 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=RCV000010156 OR RCV000850660 OR RCV002260583" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010156, RCV000850660, RCV002260583" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010156...</a>
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<p><a href="#5" class="mim-tip-reference" title="Tiranti, V., D'Agruma, L., Pareyson, D., Mora, M., Carrara, F., Zelante, L., Gasparini, P., Zeviani, M. <strong>A novel mutation in the mitochondrial tRNA-val gene associated with a complex neurological presentation.</strong> Ann. Neurol. 43: 98-101, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9450773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9450773</a>] [<a href="https://doi.org/10.1002/ana.410430116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9450773">Tiranti et al. (1998)</a> described a novel heteroplasmic G-to-A transition, affecting the acceptor stem of the mitochondrial tRNA-val gene, in a 48-year-old man who presented with progressive ataxia, seizures, mental deterioration, mild myopathy, and hearing loss. Mutant mtDNA was 67% of total mtDNA in the muscle of the proband and was also present at low levels in the muscle of his healthy mother. It was absent in all of the control DNA samples tested. Analysis of single muscle fibers revealed a significantly greater level of mutant mtDNA in cytochrome c oxidase-negative fibers. <a href="#5" class="mim-tip-reference" title="Tiranti, V., D'Agruma, L., Pareyson, D., Mora, M., Carrara, F., Zelante, L., Gasparini, P., Zeviani, M. <strong>A novel mutation in the mitochondrial tRNA-val gene associated with a complex neurological presentation.</strong> Ann. Neurol. 43: 98-101, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9450773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9450773</a>] [<a href="https://doi.org/10.1002/ana.410430116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9450773">Tiranti et al. (1998)</a> concluded that mutations of mtDNA may be responsible for neurologic syndromes that, like the present case, are clinically puzzling, and lack typical 'mitochondrial' clues such as elevated levels of blood lactate, overt defects of the respiratory complexes, and clinically documented maternal inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9450773" 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="Sacconi, S., Salviati, L., Gooch, C., Bonilla, E., Shanske, S., DiMauro, S. <strong>Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.</strong> Arch. Neurol. 59: 1013-1015, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12056939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12056939</a>] [<a href="https://doi.org/10.1001/archneur.59.6.1013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12056939">Sacconi et al. (2002)</a> described a 37-year-old man who, after childhood, developed a complex clinical picture characterized by hearing loss, migraine, ataxia, seizures, cataracts, retinitis pigmentosa, mental deterioration, and hypothyroidism. MRI revealed diffuse calcification of the basal ganglia and cerebral cortical atrophy. Biochemical analysis showed normal activities of respiratory chain enzymes and citrate synthase. Morphologic examination showed scattered ragged-red fibers and poor or absent cytochrome c oxidase staining in 10% of the fibers. A heteroplasmic 1606G-A transition was found in the MTTV gene. Mutant DNA constituted 70% of the total in the proband's muscle. The mutation was absent in blood samples and urinary sediment from his healthy brother and mother. This second patient with the 1606G-A mutation confirmed both the pathogenicity of the mutation and its association with a characteristic complex neurologic phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12056939" 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 LEIGH SYNDROME, MITOCHONDRIAL (1 family)</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">rs199476144 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199476144;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=rs199476144" 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=rs199476144" 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=RCV000010158 OR RCV000850667 OR RCV004554592" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010158, RCV000850667, RCV004554592" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010158...</a>
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<p><a href="#2" class="mim-tip-reference" title="McFarland, R., Clark, K. M., Morris, A. A. M., Taylor, R. W., Macphail, S., Lightowlers, R. N., Turnbull, D. M. <strong>Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.</strong> Nature Genet. 30: 145-146, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11799391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11799391</a>] [<a href="https://doi.org/10.1038/ng819" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11799391">McFarland et al. (2002)</a> reported the case of a 35-year-old woman who had 1 surviving child with mitochondrial Leigh syndrome (MILS; <a href="/entry/500017">500017</a>) from 10 pregnancies with 4 unrelated partners. A number of her relatives died in early infancy, including her 3 sibs. She had suffered occasional migraine headaches, and examination demonstrated very mild proximal muscle weakness. In contrast, all of her offspring showed evidence of profound mitochondrial dysfunction. One was delivered by cesarean at 32 weeks' gestation because of deteriorating cardiac function. Despite immediate clinical intervention, the baby died of severe cardiac failure at 21 hours of life. Autopsy showed biventricular hypertrophic cardiomyopathy. Six infants died in the early neonatal period with lacticacidosis, the longest survivor dying 85 hours after birth. Although several changes in mitochondrial DNA were found, <a href="#2" class="mim-tip-reference" title="McFarland, R., Clark, K. M., Morris, A. A. M., Taylor, R. W., Macphail, S., Lightowlers, R. N., Turnbull, D. M. <strong>Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.</strong> Nature Genet. 30: 145-146, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11799391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11799391</a>] [<a href="https://doi.org/10.1038/ng819" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11799391">McFarland et al. (2002)</a> concluded that a C-to-T transition of nucleotide 1624, present in homoplasmic state in the gene encoding mitochondrial tRNA(Val), was responsible for the findings. The change was expected to affect a basepair in the dihydrouridine loop that is highly conserved in species from yeast to human. A marked, selective reduction of the steady-state level of mitochondrial tRNA(Val) in cardiac and skeletal muscle was found in one of the infants that died neonatally and in skeletal muscle from the mother. These and other data suggested that the 1624C-T mutant was rapidly degraded. The marked difference in phenotype between the mother and her offspring was not explained by this defect; the authors suggested that other factors, such as nuclear-encoded components or epigenetic phenomena, might be involved. Given the severe biochemical defect and the low level of mitochondrial tRNA(Val), what was surprising about this family was not that the children were severely affected but that the mother had survived and had so few clinical problems. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11799391" 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><div class="mim-changed mim-change">.0003 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, MITOCHONDRIAL (1 family)</div></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">rs1057516055 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057516055;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=rs1057516055" 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=rs1057516055" 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=RCV000408936 OR RCV001281575 OR RCV002248638 OR RCV003985323 OR RCV004808700" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000408936, RCV001281575, RCV002248638, RCV003985323, RCV004808700" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000408936...</a>
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<div class="mim-changed mim-change"><p>In an affected member of a large multigenerational Venezuelan family with a mitochondrial form of axonal Charcot-Marie-Tooth disease (CMTMA; <a href="/entry/500013">500013</a>), <a href="#1" class="mim-tip-reference" title="Fay, A., Garcia, Y., Margeta, M., Maharjan, S., Jurgensen, C., Briceno, J., Garcia, M., Yin, S., Bassaganyas, L., McMahon, T., Hou, Y.-M., Fu, Y.-H., Ptacek, L. J. <strong>A mitochondrial tRNA mutation causes axonal CMT in a large Venezuelan family.</strong> Ann. Neurol. 88: 830-842, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32715519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32715519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32715519[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/10.1002/ana.25854" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32715519">Fay et al. (2020)</a> identified a homoplasmic c.1661A-G transition in the MTTV gene, predicted to cause disruption of a base pair in the T-stem loop. The mutation, which was found by next-generation sequencing of mtDNA, was subsequently found in 4 additional family members, including 1 clinically asymptomatic individual, all of whom were homoplasmic for the mutation. These 3 affected individuals also had multiple large mtDNA deletions that were not found in the asymptomatic carrier. Northern blot analysis of muscle derived from the 4 patients showed decreased levels of mt-tRNA(Val) mRNA compared to controls. Patient muscle tissue also showed reduced activities of multiple enzymes in the mitochondrial respiratory chain complex, including I+III and IV. The reduction in enzyme activity was greater in those who were more severely affected. The findings suggested mitochondrial dysfunction as a cause of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32715519" 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></div>
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<div class="mim-changed mim-change"><p>In 10 members from 3 generations of a Chinese family with mitochondrial spastic paraplegia (SPGM; <a href="/entry/500018">500018</a>), <a href="#4" class="mim-tip-reference" title="Shi, Y., Xie, J., Jiang, J., Yan, X., Chen, X., Hong, S., Liu, J., Xu, G., Su, H., Chen, W., Wang, N., Lin, X. <strong>A homoplasmic MT-TV mutation associated with mitochondrial inheritance of hereditary spastic paraplegia.</strong> Mov. Disord. 40: 168-173, 2025.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39468830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39468830</a>] [<a href="https://doi.org/10.1002/mds.30048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="39468830">Shi et al. (2025)</a> identified homoplasmy for the c.1661A-G transition in the MTTV gene. The mutation was identified by whole-exome and whole-genome sequencing and segregated with disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39468830" 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></div>
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Fay, A., Garcia, Y., Margeta, M., Maharjan, S., Jurgensen, C., Briceno, J., Garcia, M., Yin, S., Bassaganyas, L., McMahon, T., Hou, Y.-M., Fu, Y.-H., Ptacek, L. J.
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<strong>A mitochondrial tRNA mutation causes axonal CMT in a large Venezuelan family.</strong>
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Ann. Neurol. 88: 830-842, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32715519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32715519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32715519[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=32715519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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McFarland, R., Clark, K. M., Morris, A. A. M., Taylor, R. W., Macphail, S., Lightowlers, R. N., Turnbull, D. M.
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<strong>Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.</strong>
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Nature Genet. 30: 145-146, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11799391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11799391</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11799391" 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/ng819" target="_blank">Full Text</a>]
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Sacconi, S., Salviati, L., Gooch, C., Bonilla, E., Shanske, S., DiMauro, S.
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<strong>Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.</strong>
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Arch. Neurol. 59: 1013-1015, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12056939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12056939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12056939" 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.59.6.1013" target="_blank">Full Text</a>]
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<a id="Shi2025" class="mim-anchor"></a>
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Shi, Y., Xie, J., Jiang, J., Yan, X., Chen, X., Hong, S., Liu, J., Xu, G., Su, H., Chen, W., Wang, N., Lin, X.
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<strong>A homoplasmic MT-TV mutation associated with mitochondrial inheritance of hereditary spastic paraplegia.</strong>
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Mov. Disord. 40: 168-173, 2025.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39468830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39468830</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39468830" 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/mds.30048" target="_blank">Full Text</a>]
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<a id="Tiranti1998" class="mim-anchor"></a>
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Tiranti, V., D'Agruma, L., Pareyson, D., Mora, M., Carrara, F., Zelante, L., Gasparini, P., Zeviani, M.
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<strong>A novel mutation in the mitochondrial tRNA-val gene associated with a complex neurological presentation.</strong>
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Ann. Neurol. 43: 98-101, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9450773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9450773</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9450773" 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.410430116" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 12/13/2024
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Cassandra L. Kniffin - updated : 01/05/2021<br>Victor A. McKusick - updated : 9/16/2002<br>Victor A. McKusick - updated : 1/18/2002<br>Victor A. McKusick - updated : 7/7/1998
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Victor A. McKusick : 3/2/1993
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alopez : 01/22/2025
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carol : 12/17/2024<br>carol : 12/13/2024<br>carol : 05/15/2024<br>ckniffin : 03/23/2024<br>alopez : 01/12/2021<br>ckniffin : 01/05/2021<br>carol : 09/22/2020<br>carol : 10/01/2002<br>tkritzer : 9/16/2002<br>tkritzer : 9/16/2002<br>alopez : 2/5/2002<br>alopez : 1/24/2002<br>terry : 1/18/2002<br>carol : 7/9/1998<br>terry : 7/7/1998<br>carol : 5/26/1993<br>carol : 5/17/1993<br>carol : 3/2/1993
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<strong>*</strong> 590105
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TRANSFER RNA, MITOCHONDRIAL, VALINE; MTTV
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tRNA-VAL, MITOCHONDRIAL
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<strong><em>HGNC Approved Gene Symbol: MT-TV</em></strong>
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<strong>SNOMEDCT:</strong> 717052002;
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<p>The mitochondrial tRNA for valine is encoded by nucleotides 1602-1670.</p>
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<strong>Molecular Genetics</strong>
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<p><strong><em>Charcot-Marie-Tooth Disease, Axonal</em></strong></p><p>
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In an affected member of a large multigenerational Venezuelan family with a mitochondrial form of axonal Charcot-Marie-Tooth disease (CMTMA; 500013), Fay et al. (2020) identified a homoplasmic c.1661A-G transition in the MTTV gene, predicted to cause disruption of a base pair in the T-stem loop (590105.0003). The mutation, which was found by next-generation sequencing of mtDNA, was subsequently found in 4 additional family members, including 1 clinically asymptomatic individual, all of whom were homoplasmic for the mutation. These 3 affected individuals also had multiple large mtDNA deletions that were not found in the asymptomatic carrier. Northern blot analysis of muscle derived from the 4 patients showed decreased levels of mt-tRNA(Val) mRNA compared to controls. Patient muscle tissue also showed reduced activities of multiple enzymes in the mitochondrial respiratory chain complex, including I+III and IV. The reduction in enzyme activity was greater in those who were more severely affected. Fay et al. (2020) postulated that the mutation may impair mitochondrial translation or function of the mitoribosome, as well as possibly interfering with axonal transport of mitochondria. </p><p><strong><em>Spastic Paraplegia</em></strong></p><p>
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Shi et al. (2025) identified homoplasmy for the c.1661A-G transition (590105.0003) in the MTTV gene in 10 family members from 3 generations of a Chinese family with mitochondrial spastic paraplegia (SPGM; 500018). It appeared that the disease process displayed anticipation, with later generations exhibiting earlier age of onset. Shi et al. (2025) found that patients from later generations had a lower mtDNA copy number, suggesting that decreased mtDNA over generations may have contributed to earlier onset of disease. </p>
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<strong>ALLELIC VARIANTS</strong>
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<strong>3 Selected Examples):</strong>
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<strong>.0001 ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS</strong>
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MTTV, 1606A-G
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SNP: rs199476143,
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ClinVar: RCV000010156, RCV000850660, RCV002260583
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<p>Tiranti et al. (1998) described a novel heteroplasmic G-to-A transition, affecting the acceptor stem of the mitochondrial tRNA-val gene, in a 48-year-old man who presented with progressive ataxia, seizures, mental deterioration, mild myopathy, and hearing loss. Mutant mtDNA was 67% of total mtDNA in the muscle of the proband and was also present at low levels in the muscle of his healthy mother. It was absent in all of the control DNA samples tested. Analysis of single muscle fibers revealed a significantly greater level of mutant mtDNA in cytochrome c oxidase-negative fibers. Tiranti et al. (1998) concluded that mutations of mtDNA may be responsible for neurologic syndromes that, like the present case, are clinically puzzling, and lack typical 'mitochondrial' clues such as elevated levels of blood lactate, overt defects of the respiratory complexes, and clinically documented maternal inheritance. </p><p>Sacconi et al. (2002) described a 37-year-old man who, after childhood, developed a complex clinical picture characterized by hearing loss, migraine, ataxia, seizures, cataracts, retinitis pigmentosa, mental deterioration, and hypothyroidism. MRI revealed diffuse calcification of the basal ganglia and cerebral cortical atrophy. Biochemical analysis showed normal activities of respiratory chain enzymes and citrate synthase. Morphologic examination showed scattered ragged-red fibers and poor or absent cytochrome c oxidase staining in 10% of the fibers. A heteroplasmic 1606G-A transition was found in the MTTV gene. Mutant DNA constituted 70% of the total in the proband's muscle. The mutation was absent in blood samples and urinary sediment from his healthy brother and mother. This second patient with the 1606G-A mutation confirmed both the pathogenicity of the mutation and its association with a characteristic complex neurologic phenotype. </p>
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<strong>.0002 LEIGH SYNDROME, MITOCHONDRIAL (1 family)</strong>
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MTTV, 1624C-T
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SNP: rs199476144,
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ClinVar: RCV000010158, RCV000850667, RCV004554592
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<p>McFarland et al. (2002) reported the case of a 35-year-old woman who had 1 surviving child with mitochondrial Leigh syndrome (MILS; 500017) from 10 pregnancies with 4 unrelated partners. A number of her relatives died in early infancy, including her 3 sibs. She had suffered occasional migraine headaches, and examination demonstrated very mild proximal muscle weakness. In contrast, all of her offspring showed evidence of profound mitochondrial dysfunction. One was delivered by cesarean at 32 weeks' gestation because of deteriorating cardiac function. Despite immediate clinical intervention, the baby died of severe cardiac failure at 21 hours of life. Autopsy showed biventricular hypertrophic cardiomyopathy. Six infants died in the early neonatal period with lacticacidosis, the longest survivor dying 85 hours after birth. Although several changes in mitochondrial DNA were found, McFarland et al. (2002) concluded that a C-to-T transition of nucleotide 1624, present in homoplasmic state in the gene encoding mitochondrial tRNA(Val), was responsible for the findings. The change was expected to affect a basepair in the dihydrouridine loop that is highly conserved in species from yeast to human. A marked, selective reduction of the steady-state level of mitochondrial tRNA(Val) in cardiac and skeletal muscle was found in one of the infants that died neonatally and in skeletal muscle from the mother. These and other data suggested that the 1624C-T mutant was rapidly degraded. The marked difference in phenotype between the mother and her offspring was not explained by this defect; the authors suggested that other factors, such as nuclear-encoded components or epigenetic phenomena, might be involved. Given the severe biochemical defect and the low level of mitochondrial tRNA(Val), what was surprising about this family was not that the children were severely affected but that the mother had survived and had so few clinical problems. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0003 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, MITOCHONDRIAL (1 family)</strong>
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</span>
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<span class="mim-text-font">
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SPASTIC PARAPLEGIA, MITOCHONDRIAL (1 family)
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<div>
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MTTV, 1661A-G
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<br />
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SNP: rs1057516055,
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ClinVar: RCV000408936, RCV001281575, RCV002248638, RCV003985323, RCV004808700
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<div class="mim-changed mim-change"><p />
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<p><strong><em>Charcot-Marie-Tooth Disease, Axonal, Mitochondrial</em></strong>
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</p></div>
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<div class="mim-changed mim-change"><p>In an affected member of a large multigenerational Venezuelan family with a mitochondrial form of axonal Charcot-Marie-Tooth disease (CMTMA; 500013), Fay et al. (2020) identified a homoplasmic c.1661A-G transition in the MTTV gene, predicted to cause disruption of a base pair in the T-stem loop. The mutation, which was found by next-generation sequencing of mtDNA, was subsequently found in 4 additional family members, including 1 clinically asymptomatic individual, all of whom were homoplasmic for the mutation. These 3 affected individuals also had multiple large mtDNA deletions that were not found in the asymptomatic carrier. Northern blot analysis of muscle derived from the 4 patients showed decreased levels of mt-tRNA(Val) mRNA compared to controls. Patient muscle tissue also showed reduced activities of multiple enzymes in the mitochondrial respiratory chain complex, including I+III and IV. The reduction in enzyme activity was greater in those who were more severely affected. The findings suggested mitochondrial dysfunction as a cause of the disorder. </p></div>
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<div class="mim-changed mim-change"><p />
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<p><strong><em>Spastic Paraplegia, Mitochondrial</em></strong>
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</p></div>
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<div class="mim-changed mim-change"><p>In 10 members from 3 generations of a Chinese family with mitochondrial spastic paraplegia (SPGM; 500018), Shi et al. (2025) identified homoplasmy for the c.1661A-G transition in the MTTV gene. The mutation was identified by whole-exome and whole-genome sequencing and segregated with disease. </p></div>
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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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Fay, A., Garcia, Y., Margeta, M., Maharjan, S., Jurgensen, C., Briceno, J., Garcia, M., Yin, S., Bassaganyas, L., McMahon, T., Hou, Y.-M., Fu, Y.-H., Ptacek, L. J.
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<strong>A mitochondrial tRNA mutation causes axonal CMT in a large Venezuelan family.</strong>
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Ann. Neurol. 88: 830-842, 2020.
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[PubMed: 32715519]
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[Full Text: https://doi.org/10.1002/ana.25854]
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McFarland, R., Clark, K. M., Morris, A. A. M., Taylor, R. W., Macphail, S., Lightowlers, R. N., Turnbull, D. M.
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<strong>Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.</strong>
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Sacconi, S., Salviati, L., Gooch, C., Bonilla, E., Shanske, S., DiMauro, S.
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<strong>Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.</strong>
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Shi, Y., Xie, J., Jiang, J., Yan, X., Chen, X., Hong, S., Liu, J., Xu, G., Su, H., Chen, W., Wang, N., Lin, X.
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<strong>A homoplasmic MT-TV mutation associated with mitochondrial inheritance of hereditary spastic paraplegia.</strong>
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[Full Text: https://doi.org/10.1002/mds.30048]
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Tiranti, V., D'Agruma, L., Pareyson, D., Mora, M., Carrara, F., Zelante, L., Gasparini, P., Zeviani, M.
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<strong>A novel mutation in the mitochondrial tRNA-val gene associated with a complex neurological presentation.</strong>
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[PubMed: 9450773]
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[Full Text: https://doi.org/10.1002/ana.410430116]
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Hilary J. Vernon - updated : 12/13/2024<br>Cassandra L. Kniffin - updated : 01/05/2021<br>Victor A. McKusick - updated : 9/16/2002<br>Victor A. McKusick - updated : 1/18/2002<br>Victor A. McKusick - updated : 7/7/1998
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Victor A. McKusick : 3/2/1993
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alopez : 01/22/2025<br>carol : 12/17/2024<br>carol : 12/13/2024<br>carol : 05/15/2024<br>ckniffin : 03/23/2024<br>alopez : 01/12/2021<br>ckniffin : 01/05/2021<br>carol : 09/22/2020<br>carol : 10/01/2002<br>tkritzer : 9/16/2002<br>tkritzer : 9/16/2002<br>alopez : 2/5/2002<br>alopez : 1/24/2002<br>terry : 1/18/2002<br>carol : 7/9/1998<br>terry : 7/7/1998<br>carol : 5/26/1993<br>carol : 5/17/1993<br>carol : 3/2/1993
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