[No title]

We describe the enzymic methods we use and the recent progress made in genomics and cell biology of human complex I

Jan Smeitink; Rob Sengers; Frans Trijbels; Lambert van den Heuvel

2002

Key concepts

Scholarcy highlights

  • NADH:ubiquinone oxidoreductase consists of at least 43 proteins; seven are encoded by the mitochondrial genome, while the remainder are encoded by the nuclear genome
  • A deficient activity of this enzyme complex is frequently observed in the clinical heterogeneous group of mitochondrial disorders, with Leigh disease as the main contributor
  • Enzyme complex activity measurement in skeletal muscle is the mainstay of the diagnostic process
  • Fibroblast studies are a prerequisite whenever prenatal enzyme diagnosis is considered
  • Mitochondrial DNA mutations are found in approximately 5–10% of all complex I deficiencies
  • We describe the enzymic methods we use and the recent progress made in genomics and cell biology of human complex I

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