Open Access
Mitochondrial DNA mutations in cancer--from bench to bedside
Anna Malgorzata Czarnecka1,Wojciech Kukwa1,Tomasz Krawczyk1,Anna Scinska1,Andrzej Kukwa1,Francesco Cappello1
Postgraduate School of Molecular Medicine, Medical University of Warsaw, ul. Zwirki i Wigury 61, 02-091 Warsaw, Poland.
DOI: 10.2741/3629 Volume 15 Issue 2, pp.437-460
Published: 01 January 2010
(This article belongs to the Special Issue Biochemical markers in biological fluids)

Mitochondria are cell organelles mostly known for their production of ATP through oxidative phosphorylation. As suggested over 70 years ago by O. Warburg and recently confirmed with molecular techniques, alterations in respiratory activity and mitochondrial DNA appear to be a common feature of malignant cells. Somatic mtDNA mutations have been reported in many types of cancer cells. MtDNA mutation pattern may enhance the specificity of cancer diagnostics, detection and prediction of tumor growth rate and patients' outcome. Therefore it may be used as a molecular cancer bio-marker. Nevertheless recently published papers list a large number of mitochondrial DNA mutations in many different cancer types, but their role in cell pathophysiology remains unsummarized. This review covers the consequences of mitochondrial genes mutations for human cell physiology and proliferation. We underline effects of mtDNA mutation-resulting amino acid changes in the respiratory chain proteins' structure, and propose changes in mitochondrial protein function. Mutations are critically evaluated and interpreted in the functional context and clinical utility of molecular mitochondrial research is summarized and new perspectives for 'mitochondrial oncology' suggested.

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Anna Malgorzata Czarnecka, Wojciech Kukwa, Tomasz Krawczyk, Anna Scinska, Andrzej Kukwa, Francesco Cappello. Mitochondrial DNA mutations in cancer--from bench to bedside. Frontiers in Bioscience-Landmark. 2010. 15(2); 437-460.