An ND-6 mitochondrial DNA mutation associated with leber hereditary optic neuropathy

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Abstract

A mitochondrial DNA mutation at nucleotide position 14,484 was found in 14 independent probands with Leber hereditary optic neuropathy and in 0250 controls. The 14,484 mutation, which changes methionine-64 to valine in a conserved domain of the ND-6 gene, occurred in association with a mitochondrial DNA haplotype that includes the 13,708 secondary mutation in 1014 probands. An associated mutation at nucleotide position 3,394, which changes conserved tyrosine-30 to histidine in the ND-1 gene, was observed in 514 probands positive for the 14,484 mutation, all of whom harbored the same mitochondrial DNA haplotype. Multiple mitochondrial DNA mutations may interact in the pathogenesis of Leber hereditary optic neuropathy and the 13,708 secondary mutation appears to play a central role in this process.

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, ND-2, ND-3, ND-4, ND-4L, ND-5, ND-6
subunits of NADH dehydrogenase

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