The mitochondrial genome and mitochondrial muscle disorders

Curr Opin Pharmacol. 2001 Jun;1(3):288-93. doi: 10.1016/s1471-4892(01)00051-0.


Mitochondrial disorders represent a multitude of clinically heterogeneous diseases in which the genetic abnormality can involve either a mitochondrial or nuclear gene. In addition to inherited defects, somatic mitochondrial DNA mutations have been implicated in the pathogenesis of neurodegenerative disease, cancer and the ageing process. The recent emergence of the first mouse models of mitochondrial disease will provide valuable insights into disease mechanisms and aid the development of realistic therapeutic strategies.

Publication types

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

MeSH terms

  • Aging / genetics
  • Aging / physiology
  • Animals
  • DNA, Mitochondrial / genetics
  • Genome, Human
  • Humans
  • Mitochondria, Muscle / genetics*
  • Mitochondria, Muscle / physiology
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / physiopathology
  • Mitochondrial Myopathies / therapy
  • Neurodegenerative Diseases / genetics


  • DNA, Mitochondrial