Impact factor'2009=1.324


Journal of Applied Genetics 47(1), 2006, pp. 67-78

Mitochondrial DNA mutations in human neoplasia

Anna M. Czarnecka, Pawel Golik, Ewa Bartnik

Abstract: Many models of tumour formation have been put forth so far. In general they involve mutations in at least three elements within the cell: oncogenes, tumour suppressors and regulators of telomere replication. Recently numerous mutations in mitochondria have been found in many tumours, whereas they were absent in normal tissues from the same individual. The presence of mutations, of course, does not prove that they play a causative role in development of neoplastic lesions and progression; however, the key role played by mitochondria in both apoptosis and generation of DNA-damaging reactive oxygen species might indicate that the observed mutations contribute to tumour development. Recent experiments with nude mice have proven that mtDNA mutations are indeed responsible for tumour growth and exacerbated ROS production. This review describes mtDNA mutations in main types of human neoplasia.

Key words: cancer, mitochondria, mtDNA, mutation.

Correspondence: E. Bartnik, Department of Genetics, University of Warsaw, ul. Pawinskiego 5a, 02-106 Warszawa, Poland, e-mail:

Full text article: