title: Homoplasmic MELAS A3243G mtDNA mutation in a colon cancer sample.
abstract: 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.
authors.affiliation: Postgraduate School of Molecular Medicine, ul. Chalubinskiego 5, 02-004 Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Lorenc
authors.forename: Jarosław
authors.initials: J
authors.lastname: Bryk
authors.forename: Paweł
authors.initials: P
authors.lastname: Golik
authors.forename: Jolanta
authors.initials: J
authors.lastname: Kupryjańczyk
authors.forename: Jerzy
authors.initials: J
authors.lastname: Ostrowski
authors.forename: Maciej
authors.initials: M
authors.lastname: Pronicki
authors.forename: Andrzej
authors.initials: A
authors.lastname: Semczuk
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Szołkowska
authors.forename: Ewa
authors.initials: E
authors.lastname: Bartnik