Cytochrome b mutations in Leber hereditary optic neuropathy

https://doi.org/10.1016/0006-291X(91)92088-2Get rights and content
Under a Creative Commons license
open archive

Abstract

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 78 probands and in association with a new apocytochrome b mutation at position 15,812 in 48 probands. Mutations in Complex III genes may be involved in Leber hereditary optic neuropathy and multiple, simultaneous mutations occur frequently.

Abbreviations

LHON
Leber hereditary optic neuropathy
mtDNA
mitochondrial DNA
Complex I
mitochondrial NADH:ubiquinone oxidoreductase (EC 1.6.99.3)
Complex III
ubiquinol cytochrome c oxidoreductase (EC 1.10.2.2)
ND-1
1st subunits of NADH dehydrogenase
ND-2
2nd subunits of NADH dehydrogenase
ND-3
3rd subunits of NADH dehydrogenase
ND-4
4th subunits of NADH dehydrogenase
ND-5
5th subunits of NADH dehydrogenase

Cited by (0)