title: Evidence for a defect in NADH: ubiquinone oxidoreductase (complex I) in Huntington's disease.
abstract: We evaluated electron transport chain activity in platelet mitochondria taken from HD patients. All 5 patients studied had striking depressions of NADH:ubiquinone oxidoreductase activity (complex I) (5.36 +/- 2.91 nmol/min/mg; control mean, 19.12 +/- 5.64 nmol/min/mg). Other electron transport chain activities were not significantly different from control values. HD may be caused by a mutation in 1 of the nuclear coded subunits of NADH:ubiquinone oxidoreductase.
authors: Department of Neurology, University of Colorado School of Medicine, Denver.
authors: W D
authors: WD
authors: Parker
authors: S J
authors: SJ
authors: Boyson
authors: A S
authors: AS
authors: Luder
authors: J K
authors: JK
authors: Parks
mesh_terms: D001792:Blood Platelets / Q000201:enzymology*; D004579:Electron Transport; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000201:enzymology; D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases / Q000097:blood* / Q000172:deficiency; D012016:Reference Values; D012307:Risk Factors
chemical_list: D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases