Cytochrome b mutations in Leber hereditary optic neuropathy

Biochem Biophys Res Commun. 1991 Dec 31;181(3):1358-64. doi: 10.1016/0006-291x(91)92088-2.

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

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cytochrome b Group / genetics*
  • DNA, Mitochondrial / genetics
  • Electron Transport Complex II
  • Humans
  • Molecular Sequence Data
  • Multienzyme Complexes / genetics
  • Mutation*
  • NAD(P)H Dehydrogenase (Quinone) / genetics
  • Oligodeoxyribonucleotides
  • Optic Atrophies, Hereditary / genetics*
  • Oxidoreductases / genetics
  • Polymerase Chain Reaction / methods
  • Restriction Mapping
  • Succinate Dehydrogenase / genetics

Substances

  • Cytochrome b Group
  • DNA, Mitochondrial
  • Multienzyme Complexes
  • Oligodeoxyribonucleotides
  • Oxidoreductases
  • Electron Transport Complex II
  • Succinate Dehydrogenase
  • NAD(P)H Dehydrogenase (Quinone)

Associated data

  • GENBANK/M64055
  • GENBANK/M64056
  • GENBANK/M64057
  • GENBANK/M64058
  • GENBANK/M64059
  • GENBANK/M64060
  • GENBANK/S67100
  • GENBANK/S74258
  • GENBANK/S74260
  • GENBANK/S74418