Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.
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.[1]References
- Cytochrome c oxidase mutations in Leber hereditary optic neuropathy. Johns, D.R., Neufeld, M.J. Biochem. Biophys. Res. Commun. (1993) [Pubmed]
Annotations and hyperlinks in this abstract are from individual authors of WikiGenes or automatically generated by the WikiGenes Data Mining Engine. The abstract is from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenesOpen Access LicencePrivacy PolicyTerms of Useapsburg
