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Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer
The role of the mitochondria in the process of carcinogenesis, mainly oxidative phosphorylation, mostly concerns their participation in the production of free radicals and ATP and in the process of apoptosis. The purpose of this study was to detect potential changes in the genes encoding the subunit...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4148381/ https://www.ncbi.nlm.nih.gov/pubmed/25110199 http://dx.doi.org/10.3892/mmr.2014.2471 |
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author | GRZYBOWSKA-SZATKOWSKA, LUDMIŁA ŚLASKA, BRYGIDA RZYMOWSKA, JOLANTA BRZOZOWSKA, ANNA FLORIAŃCZYK, BOLESŁAW |
author_facet | GRZYBOWSKA-SZATKOWSKA, LUDMIŁA ŚLASKA, BRYGIDA RZYMOWSKA, JOLANTA BRZOZOWSKA, ANNA FLORIAŃCZYK, BOLESŁAW |
author_sort | GRZYBOWSKA-SZATKOWSKA, LUDMIŁA |
collection | PubMed |
description | The role of the mitochondria in the process of carcinogenesis, mainly oxidative phosphorylation, mostly concerns their participation in the production of free radicals and ATP and in the process of apoptosis. The purpose of this study was to detect potential changes in the genes encoding the subunits 6 and 8 of the ATP synthase and their impact on the enzyme’s biochemical properties, structure and function in patients with breast tumors. The tested material was mitochondrial DNA (mtDNA) isolated from specimens of ductal carcinoma (carcinoma ductale) Tp1-2Np0-1Mp0, blood and non-cancerous tissue of mammary gland (control), sampled from 50 patients who had been operated for breast cancer. In the case of missense-type changes in the mtDNA, protein prediction software was used to assess their effect on the biochemical properties of the protein, its structure and function. We identified 8 changes in the ATP6 gene in 36/50 examined breast cancer cell samples and 5 changes in the ATP8 gene (10/50). Most of them were homoplasmic changes of missense type. Four of the changes (A8439C, G8858C, C9130G and T9119G) had not been described in the literature before. The identified mutations and polymorphisms, especially those of missense type, can affect mitochondrial functions, especially if the conservative domain of the protein is concerned. Replacement of ‘wild-type’ mtDNA by mutated mtDNA can be an important event in carcinogenesis. |
format | Online Article Text |
id | pubmed-4148381 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | D.A. Spandidos |
record_format | MEDLINE/PubMed |
spelling | pubmed-41483812014-08-29 Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer GRZYBOWSKA-SZATKOWSKA, LUDMIŁA ŚLASKA, BRYGIDA RZYMOWSKA, JOLANTA BRZOZOWSKA, ANNA FLORIAŃCZYK, BOLESŁAW Mol Med Rep Articles The role of the mitochondria in the process of carcinogenesis, mainly oxidative phosphorylation, mostly concerns their participation in the production of free radicals and ATP and in the process of apoptosis. The purpose of this study was to detect potential changes in the genes encoding the subunits 6 and 8 of the ATP synthase and their impact on the enzyme’s biochemical properties, structure and function in patients with breast tumors. The tested material was mitochondrial DNA (mtDNA) isolated from specimens of ductal carcinoma (carcinoma ductale) Tp1-2Np0-1Mp0, blood and non-cancerous tissue of mammary gland (control), sampled from 50 patients who had been operated for breast cancer. In the case of missense-type changes in the mtDNA, protein prediction software was used to assess their effect on the biochemical properties of the protein, its structure and function. We identified 8 changes in the ATP6 gene in 36/50 examined breast cancer cell samples and 5 changes in the ATP8 gene (10/50). Most of them were homoplasmic changes of missense type. Four of the changes (A8439C, G8858C, C9130G and T9119G) had not been described in the literature before. The identified mutations and polymorphisms, especially those of missense type, can affect mitochondrial functions, especially if the conservative domain of the protein is concerned. Replacement of ‘wild-type’ mtDNA by mutated mtDNA can be an important event in carcinogenesis. D.A. Spandidos 2014-10 2014-08-08 /pmc/articles/PMC4148381/ /pubmed/25110199 http://dx.doi.org/10.3892/mmr.2014.2471 Text en Copyright © 2014, Spandidos Publications http://creativecommons.org/licenses/by/3.0 This is an open-access article licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License. The article may be redistributed, reproduced, and reused for non-commercial purposes, provided the original source is properly cited. |
spellingShingle | Articles GRZYBOWSKA-SZATKOWSKA, LUDMIŁA ŚLASKA, BRYGIDA RZYMOWSKA, JOLANTA BRZOZOWSKA, ANNA FLORIAŃCZYK, BOLESŁAW Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer |
title | Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer |
title_full | Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer |
title_fullStr | Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer |
title_full_unstemmed | Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer |
title_short | Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer |
title_sort | novel mitochondrial mutations in the atp6 and atp8 genes in patients with breast cancer |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4148381/ https://www.ncbi.nlm.nih.gov/pubmed/25110199 http://dx.doi.org/10.3892/mmr.2014.2471 |
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