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Homoplasmic MELAS A3243G mtDNA mutation in a colon cancer sample

Lorenc, Anna, Bryk, Jarek, Golik, Paweł, Kupryjańczyk, Jolanta, Ostrowski, Jerzy, Pronicki, Maciej, Semczuk, Andrzej, Szołkowska, Małgorzata and Bartnik, Ewa (2003) Homoplasmic MELAS A3243G mtDNA mutation in a colon cancer sample. Mitochondrion, 3 (2). pp. 119-124. ISSN 15677249

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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.

Item Type: Article
Subjects: Q Science > Q Science (General)
Q Science > QH Natural history
R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Schools: School of Applied Sciences
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Depositing User: Sara Taylor
Date Deposited: 10 Sep 2015 13:18
Last Modified: 28 Aug 2021 11:54


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