title: Cytochrome b mutations in Leber hereditary optic neuropathy.
abstract: New mutations were discovered in the apocytochrome b gene in Leber hereditary optic neuropathy probands who did not harbor either of the two known Complex I mutations (positions 3,460 and 11,778). A mutation at position 15,257 was found in eight independent probands which changed a highly conserved aspartate to asparagine, was not found in controls, and appears to be pathogenetically significant. The 15,257 mutation occurred in association with a known synergistic mutation at position 13,708 in 7/8 probands and in association with a new apocytochrome b mutation at position 15,812 in 4/8 probands. Mutations in Complex III genes may be involved in Leber hereditary optic neuropathy and multiple, simultaneous mutations occur frequently.
authors.affiliation: Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21205.
authors.forename: D R
authors.initials: DR
authors.lastname: Johns
authors.forename: M J
authors.initials: MJ
authors.lastname: Neufeld
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003573:Cytochrome b Group / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics; D042963:Electron Transport Complex II; D006801:Humans; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000235:genetics; D009154:Mutation; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000235:genetics; D009838:Oligodeoxyribonucleotides; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D010088:Oxidoreductases / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D015183:Restriction Mapping; D013385:Succinate Dehydrogenase / Q000235:genetics
chemical_list: D003573:Cytochrome b Group; D004272:DNA, Mitochondrial; D009097:Multienzyme Complexes; D009838:Oligodeoxyribonucleotides; D010088:Oxidoreductases; D042963:Electron Transport Complex II; D013385:Succinate Dehydrogenase; D016660:NAD(P)H Dehydrogenase (Quinone)