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

Abstract:

:A mitochondrial DNA mutation at nucleotide position 14,484 was found in 14 independent probands with Leber hereditary optic neuropathy and in 0/250 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 10/14 probands. An associated mutation at nucleotide position 3,394, which changes conserved tyrosine-30 to histidine in the ND-1 gene, was observed in 5/14 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.

authors

Johns DR,Neufeld MJ,Park RD

doi

10.1016/0006-291x(92)90479-5

subject

Has Abstract

pub_date

1992-09-30 00:00:00

pages

1551-7

issue

3

eissn

0006-291X

issn

1090-2104

pii

0006-291X(92)90479-5

journal_volume

187

pub_type

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