REVIEW

Cell Research (2009): 1-14
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Implications of mitochondrial DNA mutations and mitochondrial dysfunction in tumorigenesis

Jianxin Lu¹, Lokendra Kumar Sharma² and Yidong Bai^1,2

Correspondence: Yidong Bai, Tel: +1-210-567-0561; Fax: +1-210-567-3803 E-mail: baiy@uthscsa.edu

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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.

Cell Research advance online publication 16 June 2009; doi: 10.1038/cr.2009.69

Keywords: mitochondrial DNA mutation, cancer, ROS, apoptosis