The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.
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.
Mayorov
Vladimir
V
Division of Basic Medical Sciences, Mercer University School of Medicine, Macon, GA 31207, USA.
Biousse
Valerie
V
Newman
Nancy J
NJ
Brown
Michael D
MD
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
D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I