Inborn errors of complex II--unusual human mitochondrial diseases

Biochim Biophys Acta. 2002 Jan 17;1553(1-2):117-22. doi: 10.1016/s0005-2728(01)00228-6.

Abstract

The succinate dehydrogenase consists of only four subunits, all nuclearly encoded, and is part of both the respiratory chain and the Krebs cycle. Mutations in the four genes encoding the subunits of the mitochondrial respiratory chain succinate dehydrogenase have been recently reported in human and shown to be associated with a wide spectrum of clinical presentations. Although a comparatively rare deficiency in human, molecularly defined succinate dehydrogenase deficiency has already been found to cause encephalomyopathy in childhood, optic atrophy or tumor in adulthood. Because none of the typical housekeeping genes encoding this respiratory chain complex is known to present tissue-specific isoforms, the tissue-specific involvement represents a quite intriguing question, which is mostly addressed in this review. A differential impairment of electron flow through the respiratory chain, handling of oxygen, and/or metabolic blockade possibly associated with defects in the different subunits that can be advocated to account for tissue-specific involvement is discussed.

Publication types

  • Review

MeSH terms

  • Citric Acid Cycle
  • Electron Transport Complex II
  • Flavoproteins / genetics
  • Fumarates / metabolism
  • Humans
  • Metabolism, Inborn Errors / enzymology*
  • Metabolism, Inborn Errors / genetics
  • Mitochondrial Diseases / enzymology*
  • Mitochondrial Diseases / genetics
  • Models, Chemical
  • Multienzyme Complexes / chemistry
  • Multienzyme Complexes / deficiency*
  • Multienzyme Complexes / genetics*
  • Mutation*
  • Oxidoreductases / chemistry
  • Oxidoreductases / deficiency*
  • Oxidoreductases / genetics*
  • Succinate Dehydrogenase / chemistry
  • Succinate Dehydrogenase / deficiency*
  • Succinate Dehydrogenase / genetics*
  • Succinic Acid / metabolism

Substances

  • Flavoproteins
  • Fumarates
  • Multienzyme Complexes
  • fumaric acid
  • Succinic Acid
  • Oxidoreductases
  • Electron Transport Complex II
  • Succinate Dehydrogenase