Mitochondrial disorders as windows into an ancient organelle

Nature. 2012 Nov 15;491(7424):374-83. doi: 10.1038/nature11707.


Much of our current knowledge about mitochondria has come from studying patients who have respiratory chain disorders. These disorders comprise a large collection of individually rare syndromes, each presenting in a unique and often devastating way. In recent years, there has been great progress in defining their genetic basis, but we still know little about the cascade of events that gives rise to such diverse pathology. Here, we review these disorders and explore them in the context of a contemporary understanding of mitochondrial evolution, biochemistry and genetics. Fully deciphering their pathogenesis is a challenging next step that will inspire the development of drug treatments for rare and common diseases.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Biological Evolution
  • Electron Transport / physiology
  • Humans
  • Mitochondria / genetics*
  • Mitochondria / metabolism*
  • Mitochondria / pathology
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / pathology*