Johns D R, Neufeld M J
Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21205.
Biochem Biophys Res Commun. 1991 Dec 31;181(3):1358-64. doi: 10.1016/0006-291x(91)92088-2.
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.
