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.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Base Sequence
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Cytochrome b Group / genetics*
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DNA, Mitochondrial / genetics
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Electron Transport Complex II
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Humans
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Molecular Sequence Data
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Multienzyme Complexes / genetics
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Mutation*
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NAD(P)H Dehydrogenase (Quinone) / genetics
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Oligodeoxyribonucleotides
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Optic Atrophies, Hereditary / genetics*
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Oxidoreductases / genetics
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Polymerase Chain Reaction / methods
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Restriction Mapping
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Succinate Dehydrogenase / genetics
Substances
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Cytochrome b Group
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DNA, Mitochondrial
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Multienzyme Complexes
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Oligodeoxyribonucleotides
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Oxidoreductases
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Electron Transport Complex II
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Succinate Dehydrogenase
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NAD(P)H Dehydrogenase (Quinone)
Associated data
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GENBANK/M64055
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GENBANK/M64056
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GENBANK/M64057
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GENBANK/M64058
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GENBANK/M64059
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GENBANK/M64060
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GENBANK/S67100
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GENBANK/S74258
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GENBANK/S74260
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GENBANK/S74418