title: The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.
abstract: 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.
authors.affiliation: Division of Basic Medical Sciences, Mercer University School of Medicine, Macon, GA 31207, USA.
authors.forename: Vladimir
authors.initials: V
authors.lastname: Mayorov
authors.forename: Valerie
authors.initials: V
authors.lastname: Biousse
authors.forename: Nancy J
authors.initials: NJ
authors.lastname: Newman
authors.forename: Michael D
authors.initials: MD
authors.lastname: Brown
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D004252:DNA Mutational Analysis / Q000379:methods; D004272:DNA, Mitochondrial / Q000235:genetics; D042967:Electron Transport Complex I / Q000235:genetics*; D005123:Eye / Q000473:pathology; D006801:Humans; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D019721:Ophthalmoscopes; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics* / Q000473:pathology
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I