Organismal effects of mitochondrial dysfunction

Hum Reprod. 2000 Jul:15 Suppl 2:44-56. doi: 10.1093/humrep/15.suppl_2.44.

Abstract

Mitochondrial disease can lead to clinical abnormalities in any organ system. Both inherited and spontaneous disorders are known. The spontaneous forms can occur as a mitochondrial DNA (mtDNA) mutation early in embryogenesis or, later in life, as somatic mutations that accumulate with age. The inherited forms may arise from any of >100 characterized mutations in mtDNA or from >200 nuclear gene defects that affect proteins required for mitochondrial function. Most dividing cells survive and interact normally despite their mitochondrial defects. Thus post-mitotic, terminally differentiated cells are preferentially affected in mitochondrial disease. This review emphasizes cellular metabolic co-operation and the structural and biochemical diversity of mitochondria as the framework for understanding the clinical spectrum of mitochondrial disease. The principles of the mitochondrial clinical assessment scale I (MCAS-I) are presented to assist in the development of diagnostic spectra of mitochondrial disease.

Publication types

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

MeSH terms

  • Animals
  • Child
  • Child, Preschool
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / metabolism
  • Humans
  • Mitochondria / genetics
  • Mitochondria / metabolism*
  • Mitochondria / ultrastructure
  • Mitochondrial Myopathies / diagnosis
  • Mitochondrial Myopathies / genetics
  • Mitochondrial Myopathies / metabolism*

Substances

  • DNA, Mitochondrial