Effect of mtDNA point mutations on cellular bioenergetics

Biochim Biophys Acta. 2012 Oct;1817(10):1740-6. doi: 10.1016/j.bbabio.2012.02.028. Epub 2012 Mar 3.


This overview discusses the results of research on the effects of most frequent mtDNA point mutations on cellular bioenergetics. Thirteen proteins coded by mtDNA are crucial for oxidative phosphorylation, 11 of them constitute key components of the respiratory chain complexes I, III and IV and 2 of mitochondrial ATP synthase. Moreover, pathogenic point mutations in mitochondrial tRNAs and rRNAs generate abnormal synthesis of the mtDNA coded proteins. Thus, pathogenic point mutations in mtDNA usually disturb the level of key parameter of the oxidative phosphorylation, i.e. the electric potential on the inner mitochondrial membrane (Δψ), and in a consequence calcium signalling and mitochondrial dynamics in the cell. Mitochondrial generation of reactive oxygen species is also modified in the mutated cells. The results obtained with cultured cells and describing biochemical consequences of mtDNA point mutations are full of contradictions. Still they help elucidate the biochemical basis of pathologies and provide a valuable tool for finding remedies in the future. This article is part of a Special Issue entitled: 17th European Bioenergetics Conference (EBEC 2012).

Publication types

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

MeSH terms

  • Animals
  • DNA, Mitochondrial / genetics
  • DNA, Mitochondrial / metabolism*
  • Electron Transport / genetics
  • Humans
  • Membrane Potential, Mitochondrial*
  • Point Mutation*
  • RNA / genetics
  • RNA / metabolism*
  • RNA, Mitochondrial
  • RNA, Transfer / genetics
  • RNA, Transfer / metabolism*
  • Reactive Oxygen Species / metabolism


  • DNA, Mitochondrial
  • RNA, Mitochondrial
  • Reactive Oxygen Species
  • RNA
  • RNA, Transfer