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The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.

Authors: Mayorov, V  Biousse, V  Newman, NJ  Brown, MD 
Citation: Mayorov V, etal., Ann Neurol. 2005 Nov;58(5):807-11.
Pubmed: (View Article at PubMed) PMID:16240359
DOI: Full-text: DOI:10.1002/ana.20669

Leber's hereditary optic neuropathy (LHON) causes central vision loss from bilateral optic neuropathy. Although 13 mitochondrial DNA (mtDNA) mutations are strongly associated with LHON, only three account for roughly 90% of cases and thus are found in multiple independent LHON families. The remaining LHON mutations are rare. Here, we describe the clinical and genetic characterization of a new LHON mtDNA mutation. The 12848T mutation alters a highly conserved amino acid in the ND5 complex I gene, is not found in controls, and is heteroplasmic. Despite ND5 being the largest of the mtDNA complex I genes, ND5 mutations are quite rare in LHON.

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RGD Object Information
RGD ID: 1581060
Created: 2006-09-13
Species: All species
Last Modified: 2006-09-13
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.