title: Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.
abstract: 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.
authors.affiliation: Department of Neurology, Beth Israel Hospital, Harvard Medical School, Boston, MA 02115.
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; D000818:Animals; D001483:Base Sequence; D005075:Biological Evolution; D003062:Codon / Q000235:genetics; D017124:Conserved Sequence; D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics*; D005998:Glycine; D006801:Humans; D046911:Macromolecular Substances; D008969:Molecular Sequence Data; D015418:Optic Atrophies, Hereditary / Q000201:enzymology / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D012694:Serine
chemical_list: D003062:Codon; D017931:DNA Primers; D004272:DNA, Mitochondrial; D046911:Macromolecular Substances; D012694:Serine; D003576:Electron Transport Complex IV; D005998:Glycine