Evidence for a defect in NADH: ubiquinone oxidoreductase (complex I) in Huntington's disease.
case_series · Level IV
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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.
Medical subject headings
- Blood Platelets
- Huntington Disease
- Quinone Reductases