Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

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Abstract

Leber's hereditary optic neuropathy has been linked to a mitochondrial DNA mutation at position 11,778 in the ND-4 gene in 50% of families. Three alternative mutations in Complex I genes at positions 4,216 (ND-1), 4,917 (ND-2), and 13,708 (ND-5) were discovered in 11,778- Leber families. The 4,917 and 13,708 mutations appear pathogenetically significant and were observed in 36% (4,917 mutation) and 43% (13,708 mutation) of 11,778- Leber probands. Multiple, simultaneous mutations were noted. Mutation of distinct, functionally related Complex I genes is the central pathogenetic feature of Leber's hereditary optic neuropathy.

Abbreviations

LHON
Leber's hereditary optic neuropathy
Complex I
mitochondrial NADH dehydrogenase (EC 1.6.99.3)
ND-1
1st subunits of NADH dehydrogenase
ND-2
2nd subunits of NADH dehydrogenase
ND-4
4th subunits of NADH dehydrogenase
ND-5
5th subunits of NADH dehydrogenase
PCR
polymerase chain reaction
nt
nucleotide

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