Evidence for a defect in NADH: ubiquinone oxidoreductase (complex I) in Huntington's disease

Neurology. 1990 Aug;40(8):1231-4. doi: 10.1212/wnl.40.8.1231.

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Blood Platelets / enzymology*
  • Electron Transport
  • Female
  • Humans
  • Huntington Disease / blood
  • Huntington Disease / enzymology*
  • Huntington Disease / genetics
  • Male
  • Middle Aged
  • Mitochondria / enzymology
  • NAD(P)H Dehydrogenase (Quinone)
  • Quinone Reductases / blood*
  • Quinone Reductases / deficiency
  • Reference Values
  • Risk Factors

Substances

  • NAD(P)H Dehydrogenase (Quinone)
  • Quinone Reductases