Epidemiology and treatment of mitochondrial disorders

Am J Med Genet. 2001 Spring;106(1):94-101. doi: 10.1002/ajmg.1426.


The last ten years have seen a huge increase in the number of different genetic defects found in patients with mitochondrial disorders, but the true impact of mitochondrial disease is only just becoming apparent. Mitochondrial diseases are far more common than was anticipated. Although there have also been major advances in our understanding of mitochondrial pathology, the clinical management of patients with mitochondrial disease is largely supportive. In this article, we focus on primary disorders of the mitochondrial respiratory chain and mtDNA defects. We review the available epidemiological data, outline current strategies for the management of mitochondrial disease, and highlight new therapeutic approaches that may prove useful in the future.

Publication types

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

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Humans
  • Mitochondrial Diseases / diagnosis
  • Mitochondrial Diseases / epidemiology*
  • Mitochondrial Diseases / therapy*
  • Mutation
  • Phenotype


  • DNA, Mitochondrial