Implications of mitochondrial DNA mutations and mitochondrial dysfunction in tumorigenesis

Cell Res. 2009 Jul;19(7):802-15. doi: 10.1038/cr.2009.69.


Alterations in oxidative phosphorylation resulting from mitochondrial dysfunction have long been hypothesized to be involved in tumorigenesis. Mitochondria have recently been shown to play an important role in regulating both programmed cell death and cell proliferation. Furthermore, mitochondrial DNA (mtDNA) mutations have been found in various cancer cells. However, the role of these mtDNA mutations in tumorigenesis remains largely unknown. This review focuses on basic mitochondrial genetics, mtDNA mutations and consequential mitochondrial dysfunction associated with cancer. The potential molecular mechanisms, mediating the pathogenesis from mtDNA mutations and mitochondrial dysfunction to tumorigenesis are also discussed.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • DNA, Mitochondrial / chemistry*
  • Genomic Instability
  • Mitochondria / genetics*
  • Mitochondria / metabolism
  • Mutation*
  • Neoplasms / genetics*
  • Neoplasms / metabolism
  • Oxidative Phosphorylation
  • Reactive Oxygen Species / metabolism
  • Signal Transduction


  • DNA, Mitochondrial
  • Reactive Oxygen Species