A family with Leber's hereditary optic neuropathy with mitochondrial 11778/ND4 and 4216/ND1 mutations.
Leber's hereditary optic neuropathy (LHON) is caused by a point mutation in the mitochondrial deoxynucleic acid (mtDNA) and accounts for 30% of bilateral optic atrophy of unknown etiology. The authors found a Korean family with mtDNA mutations in the nucleotide positions (np) 11778 and np 4216. This is the first report confirming a secondary mtDNA np 4216 mutation in Koreans, as well as the first report of a Korean family harboring both primary and the secondary mutations that the authors are aware of.
Hwang
J M
JM
Department of Ophthalmology, Seoul Municipal Boramae Hospital, College of Medicine Seoul National University, Korea.
D000293:Adolescent; D000328:Adult; D000483:Alleles; D003573:Cytochrome b Group / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D015418:Optic Atrophies, Hereditary / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014792:Visual Acuity
D003573:Cytochrome b Group; D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV