Mitochondrial diseases and genetic defects of ATP synthase

Biochim Biophys Acta. 2006 Sep-Oct;1757(9-10):1400-5. doi: 10.1016/j.bbabio.2006.04.006. Epub 2006 Apr 19.


ATP synthase is a key enzyme of mitochondrial energy conversion. In mammals, it produces most of cellular ATP. Alteration of ATP synthase biogenesis may cause two types of isolated defects: qualitative when the enzyme is structurally modified and does not function properly, and quantitative when it is present in insufficient amounts. In both cases the cellular energy provision is impaired, and diminished use of mitochondrial DeltamuH+ promotes ROS production by the mitochondrial respiratory chain. The primary genetic defects have so far been localized in mtDNA ATP6 gene and nuclear ATP12 gene, however, involvement of other nuclear genes is highly probable.

Publication types

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

MeSH terms

  • Animals
  • Humans
  • Mitochondrial Diseases / enzymology*
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / pathology
  • Mitochondrial Proton-Translocating ATPases / biosynthesis
  • Mitochondrial Proton-Translocating ATPases / genetics*
  • Mitochondrial Proton-Translocating ATPases / metabolism*
  • Reactive Oxygen Species / metabolism


  • Reactive Oxygen Species
  • Mitochondrial Proton-Translocating ATPases