Disorders of mitochondria and related metabolism

Curr Opin Neurol. 1997 Apr;10(2):160-7. doi: 10.1097/00019052-199704000-00015.

Abstract

Mitochondrial disorders are caused by mutations in either nuclear or mitochondrial genes involved in the synthesis of respiratory chain subunits or in their post-translational control. Molecular lesions of mitochondrial DNA are a frequent cause of defective oxidative phosphorylation. Although only one mutation of nuclear-encoded oxidative phosphorylation subunits has so far been reported in humans, numerous biochemically defined disorders are attributed to nuclear gene defects. The pathogenesis of these disorders has been investigated through a combination of different expertises, including keen clinical observation, classical biochemistry and muscle morphology, molecular and cellular biology, linkage analysis and population genetic studies.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • DNA, Mitochondrial / genetics
  • Electron Transport / genetics
  • Electron Transport / physiology
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Mitochondria, Muscle / genetics
  • Mitochondria, Muscle / physiology
  • Mitochondrial Encephalomyopathies / diagnosis
  • Mitochondrial Encephalomyopathies / genetics*
  • Mitochondrial Encephalomyopathies / physiopathology
  • Mitochondrial Myopathies / diagnosis
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / physiopathology
  • Point Mutation
  • Pregnancy
  • Sex Chromosome Aberrations / genetics
  • X Chromosome

Substances

  • DNA, Mitochondrial

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