Homosplasmic MELAS A3243G mtDNA mutation in a colon cancer sample

Anna Lorenc, Jaros Bryk, Paweł Golik, Jolanta Kupryjańczyk, Jerzy Ostrowski, Maciej Pronicki, Andrzej Semczuk, Małgorzata Szołkowska, Ewa Bartnik

Research output: Contribution to journalArticlepeer-review

34 Citations (Scopus)


We have analyzed mtDNA variation in various cancer samples, comparing them with normal tissue controls, and identified mutations and polymorphisms, both known and novel, in mitochondrial tRNA, rRNA and protein genes. Most remarkably, in a colon cancer sample we have found the A3243G mutation in the homoplasmic state. This mutation is known to cause severe mitochondrial dysfunction and, until now, has not been found in cancer cells, nor in the homoplasmic state in living subjects. The mutation was absent from normal tissue, suggesting that mtDNA mutation and resulting respiratory deficiency played a role in carcinogenesis.

Original languageEnglish
Pages (from-to)119-124
Number of pages6
Issue number2
Publication statusPublished - Oct 2003
Externally publishedYes


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