Cytochrome c oxidase mutations in Leber hereditary optic neuropathy

Biochem Biophys Res Commun. 1993 Oct 29;196(2):810-5. doi: 10.1006/bbrc.1993.2321.


New mitochondrial DNA mutations were discovered in the cytochrome c oxidase subunit III gene in 8 independent Leber hereditary optic neuropathy probands. A mutation at nucleotide position 9438 was found in 5 probands, changed highly conserved glycine-78 to serine (G78S), and was not found in controls. A mutation at nucleotide position 9804 was found in 3 probands, changed highly conserved alanine-200 to threonine (A200T), and also was not found in controls. The 9438 mutation is readily detected by the loss of a Stu 1 restriction site and the 9804 mutation is detected by the gain of an Mae III restriction site. These mtDNA mutations may represent the first convincing examples of cytochrome c oxidase (Complex IV) mutations associated with a human disease.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Biological Evolution
  • Codon / genetics
  • Conserved Sequence
  • DNA Primers
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex IV / genetics*
  • Glycine
  • Humans
  • Macromolecular Substances
  • Molecular Sequence Data
  • Optic Atrophies, Hereditary / enzymology
  • Optic Atrophies, Hereditary / genetics*
  • Point Mutation*
  • Polymerase Chain Reaction
  • Restriction Mapping
  • Serine


  • Codon
  • DNA Primers
  • DNA, Mitochondrial
  • Macromolecular Substances
  • Serine
  • Electron Transport Complex IV
  • Glycine