The mitochondrial DNA mutation ND6*14,484C associated with leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain.
The electron transfer activity of Complex I of the respiratory chain and Complex I-linked ATP synthesis were investigated in leukocytes of four males affected by Leber hereditary optic neuropathy and a mutation in the ND6 gene at nucleotide position 14,484 of mtDNA. The electron transfer activity in leukocytes of the patients was about 35% of that in control leukocytes, whereas the Complex I-linked ATP synthesis showed a decrease of only about 20%. This demonstrates that all three mtDNA mutations that are clearly associated with Leber hereditary optic neuropathy result in deficiency of Complex I. However, the relationship between these mtDNA mutations, the function of Complex I and the phenotypic profile remains elusive.
D000255:Adenosine Triphosphate / Q000097:blood; D002950:Citrate (si)-Synthase / Q000097:blood; D004272:DNA, Mitochondrial / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D007700:Kinetics; D007962:Leukocytes / Q000378:metabolism; D008297:Male; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000097:blood / Q000172:deficiency* / Q000235:genetics*; D015418:Optic Atrophies, Hereditary / Q000201:enzymology / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D012016:Reference Values
D004272:DNA, Mitochondrial; D000255:Adenosine Triphosphate; D016660:NAD(P)H Dehydrogenase (Quinone); D002950:Citrate (si)-Synthase