Human mitochondrial complex I dysfunction.
In humans, complex I dysfunction has been observed in a high percentage of patients with mitochondrial myopathy. Analysis of mitochondria from these patients suggests the function and assembly of complex I is particularly susceptible to abnormalities of mitochondrial DNA, involving either point mutations of tRNA genes or major deletions. The evidence for a complex I defect in Parkinson's disease is accumulating, although the cause of this deficiency or the role it plays in the events that culminate in dopaminergic cell death remains unresolved.
Cooper
J M
JM
Department of Neuroscience, Royal Free Hospital School of Medicine, London, UK.
Mann
V M
VM
Krige
D
D
Schapira
A H
AH
D000375:Aging / Q000378:metabolism; D001927:Brain Diseases / Q000201:enzymology; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D008659:Metabolic Diseases / Q000201:enzymology*; D008928:Mitochondria / Q000201:enzymology*; D009135:Muscular Diseases / Q000201:enzymology*; D009154:Mutation; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000172:deficiency / Q000235:genetics / Q000378:metabolism*; D010300:Parkinson Disease / Q000201:enzymology
D004272:DNA, Mitochondrial; D016660:NAD(P)H Dehydrogenase (Quinone)