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 journalArticle

30 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)119-124
Number of pages6
JournalMitochondrion
Volume3
Issue number2
DOIs
Publication statusPublished - Oct 2003
Externally publishedYes

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MELAS Syndrome
Mitochondrial DNA
Colonic Neoplasms
Mutation
Mitochondrial Genes
Transfer RNA
rRNA Genes
Neoplasms
Carcinogenesis
Proteins

Cite this

Lorenc, A., Bryk, J., Golik, P., Kupryjańczyk, J., Ostrowski, J., Pronicki, M., ... Bartnik, E. (2003). Homosplasmic MELAS A3243G mtDNA mutation in a colon cancer sample. Mitochondrion, 3(2), 119-124. https://doi.org/10.1016/S1567-7249(03)00106-5
Lorenc, Anna ; Bryk, Jaros ; Golik, Paweł ; Kupryjańczyk, Jolanta ; Ostrowski, Jerzy ; Pronicki, Maciej ; Semczuk, Andrzej ; Szołkowska, Małgorzata ; Bartnik, Ewa. / Homosplasmic MELAS A3243G mtDNA mutation in a colon cancer sample. In: Mitochondrion. 2003 ; Vol. 3, No. 2. pp. 119-124.
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Lorenc, A, Bryk, J, Golik, P, Kupryjańczyk, J, Ostrowski, J, Pronicki, M, Semczuk, A, Szołkowska, M & Bartnik, E 2003, 'Homosplasmic MELAS A3243G mtDNA mutation in a colon cancer sample', Mitochondrion, vol. 3, no. 2, pp. 119-124. https://doi.org/10.1016/S1567-7249(03)00106-5

Homosplasmic MELAS A3243G mtDNA mutation in a colon cancer sample. / Lorenc, Anna; Bryk, Jaros; Golik, Paweł; Kupryjańczyk, Jolanta; Ostrowski, Jerzy; Pronicki, Maciej; Semczuk, Andrzej; Szołkowska, Małgorzata; Bartnik, Ewa.

In: Mitochondrion, Vol. 3, No. 2, 10.2003, p. 119-124.

Research output: Contribution to journalArticle

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T1 - Homosplasmic MELAS A3243G mtDNA mutation in a colon cancer sample

AU - Lorenc, Anna

AU - Bryk, Jaros

AU - Golik, Paweł

AU - Kupryjańczyk, Jolanta

AU - Ostrowski, Jerzy

AU - Pronicki, Maciej

AU - Semczuk, Andrzej

AU - Szołkowska, Małgorzata

AU - Bartnik, Ewa

PY - 2003/10

Y1 - 2003/10

N2 - 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.

AB - 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.

KW - Cancer

KW - Homoplasmy

KW - MELAS

KW - Somatic mutation

KW - tRNA

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DO - 10.1016/S1567-7249(03)00106-5

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JF - Mitochondrion

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Lorenc A, Bryk J, Golik P, Kupryjańczyk J, Ostrowski J, Pronicki M et al. Homosplasmic MELAS A3243G mtDNA mutation in a colon cancer sample. Mitochondrion. 2003 Oct;3(2):119-124. https://doi.org/10.1016/S1567-7249(03)00106-5