IBB PAS Repository

Yeast models of mutations in the mitochondrial ATP6 gene found in human cancer cells

Niedźwiecka, Katarzyna and Kabala, Anna Magdalena and Lasserre, Jean-Paul and Tribouillard-Tanvier, D. and Golik, Paweł and Dautant, A. and di Rago, Jean-Paul and Kucharczyk, Roza (2016) Yeast models of mutations in the mitochondrial ATP6 gene found in human cancer cells. Mitochondrion, 29 . pp. 7-17. ISSN 1567-7249

[img] Microsoft Word

Official URL: http://www.ncbi.nlm.nih.gov/pubmed/27083309


Since the discovery of somatic mtDNA mutations in tumor cells, multiple studies have focused on establishing a causal relationship between those changes and alterations in energy metabolism, a hallmark of cancer cells. Yet the consequences of these mutations on mitochondrial function remain largely unknown. In this study, Saccharomyces cerevisiae has been used as a model to investigate the functional consequences of four cancer-associated missense mutations (8914CNA, 8932CNT, 8953ANG, 9131TNC) found in the mitochondrial MT-ATP6 gene. This gene encodes the a-subunit of F1FO-ATP synthase, which catalyzes the last steps of ATP production in mitochondria. Although the four studied mutations affected well-conserved residues of the a-subunit, only one of them (8932CNT) had a significant impact on mitochondrial function, due to a less efficient incorporation of the asubunit into ATP synthase. Our findings indicate that these ATP6 genetic variants found in human tumors are neutral mitochondrial genome substitutions with a limited, if any, impact on the energetic function of mitochondria.

Item Type:Article
Subjects:Q Science > QD Chemistry
R Medicine > RB Pathology
Divisions:Department of Genetics
ID Code:1190
Deposited By: Dr hab Roza Kucharczyk
Deposited On:05 May 2016 07:33
Last Modified:08 Mar 2018 15:33

Repository Staff Only: item control page