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Biochem Biophys Res Commun. 1993 Oct 29;196(2):810-5.

Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.

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Department of Neurology, Beth Israel Hospital, Harvard Medical School, Boston, MA 02115.


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.

[Indexed for MEDLINE]

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