Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Molecular Medicine Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 1791-2997 Online ISSN: 1791-3004
Journal Cover
October 2014 Volume 10 Issue 4

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
October 2014 Volume 10 Issue 4

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article Open Access

Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer

  • Authors:
    • Ludmiła Grzybowska-Szatkowska
    • Brygida Ślaska
    • Jolanta Rzymowska
    • Anna Brzozowska
    • Bolesław Floriańczyk
  • View Affiliations / Copyright

    Affiliations: Department of Oncology, Medical University of Lublin, 20-090 Lublin, Poland, Department of Biological Bases of Animal Production, University of Life Sciences in Lublin, 20-950 Lublin, Poland , Department of Biology and Genetics, Medical University of Lublin, 20-093 Lublin, Poland, Department of Clinical Dietetics, Medical University of Lublin, 20-093 Lublin, Poland
    Copyright: © Grzybowska-Szatkowska et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].
  • Pages: 1772-1778
    |
    Published online on: August 8, 2014
       https://doi.org/10.3892/mmr.2014.2471
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

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.
View Figures

Figure 1

Figure 2

View References

1 

Wallace DC: Bioenergetics in human evolution and disease: implications for the origins of biological complexity and the missing genetic variation of common diseases. Philos Trans R Soc Lond B Biol Sci. 368:2012.02672013.

2 

Féthière J, Venzke D, Diepholz M, et al: Building the stator of the yeast vacuolar-ATPase: specific interaction between subunits E and G. J Biol Chem. 279:40670–40676. 2004.PubMed/NCBI

3 

Czarnecka A and Bartnik E: The role of the mitochondrial genome in ageing and carcinogenesis. J Aging Res. 2011:1364352011. View Article : Google Scholar : PubMed/NCBI

4 

Grzybowska-Szatkowska L and Slaska B: Mitochondrial DNA and carcinogenesis (review). Mol Med Rep. 6:923–930. 2012.

5 

Zhu W, Qin W, Bradley P, Wessel A, Puckett CL and Sauter ER: Mitochondrial DNA mutations in breast cancer tissue and in matched nipple aspirate fluid. Carcinogenesis. 26:145–152. 2005. View Article : Google Scholar : PubMed/NCBI

6 

Thomas PD, Campbell MJ, Kejariwal A, Mi H, et al: PANTHER: A library of protein families and subfamilies indexed by function. Genome Res. 13:2129–2141. 2003. View Article : Google Scholar : PubMed/NCBI

7 

Sonnhammer ELL, von Heijne G and Krogh A: A hidden Markov model for predicting transmembrane helices in protein sequences. Proc Int Conf Intell Syst Mol Biol; 6:175–182. 1998.

8 

Finn RD, Mistry J, Tate J, Coggill P, et al: The Pfam protein families database. Nucleic Acids Res. 38:D211–D222. 2010. View Article : Google Scholar : PubMed/NCBI

9 

Muñoz V and Serrano L: Elucidating the folding problem of helical peptides using empirical parameters. Nat Struct Mol Biol. 1:399–409. 1994.

10 

Kyte J and Doolittle RF: A simple method for displaying the hydropathic character of a protein. J Mol Biol. 157:105–132. 1982. View Article : Google Scholar : PubMed/NCBI

11 

Gasteiger E, Hoogland C, Gattiker A, Duvaud S, Wilkins MR, Appel RD and Bairoch A: Protein identification and analysis tools on the ExPASy server. The Proteomics Protocols Handbook. Walker JM: Humana Press; New York, NY: pp. 571–607. 2005, View Article : Google Scholar

12 

Goldenberg O, Erez E, Nimrod G and Ben-Tal N: The ConSurf-DB: pre-calculated evolutionary conservation profiles of protein structures. Nucleic Acids Res. 37:D323–D327. 2009. View Article : Google Scholar : PubMed/NCBI

13 

Glaser F, Pupko T, Paz I, Bell RE, Bechor-Shental D, Martz E and Ben-Tal N: ConSurf: identification of functional regions in proteins by surface-mapping of phylogenetic information. Bioinformatics. 19:163–164. 2003. View Article : Google Scholar : PubMed/NCBI

14 

Canter JA, Kallianpur AR, Parl FF and Millikan RC: Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women. Cancer Res. 65:8028–8033. 2005.

15 

Grzybowska-Szatkowska L and Slaska B: Polymorphisms in genes encoding mt-tRNA in female breast cancer in Poland. Mitochondrial DNA. 23:106–111. 2012. View Article : Google Scholar : PubMed/NCBI

16 

Petros JA, Baumann AK, Ruiz-Pesini E, et al: MtDNA mutations increase tumorigenicity in prostate cancer. Proc Natl Acad Sci USA. 102:719–724. 2005. View Article : Google Scholar : PubMed/NCBI

17 

Brandon M, Baldi P and Wallace DC: Mitochondrial mutations in cancer. Oncogene. 25:4647–4662. 2006. View Article : Google Scholar

18 

Jones JB, Song JJ, Hempen PM, Parmigiani G, Hruban RH and Kern SE: Detection of mitochondrial DNA mutations in pancreatic cancer offers a ‘mass’-ive advantage over detection of nuclear DNA mutations. Cancer Res. 61:1299–1304. 2001.PubMed/NCBI

19 

Guo XG, Liu CT, Dai H and Guo QN: Mutations in the mitochondrial ATPase6 gene are frequent in human osteosarcoma. Exp Mol Pathol. 94:285–288. 2013. View Article : Google Scholar : PubMed/NCBI

20 

Dasgupta S, Shao CB, Keane TE, et al: Detection of mitochondrial deoxyribonucleic acid alterations in urine from urothelial cells carcinoma patients. Int J Cancer. 131:158–164. 2012. View Article : Google Scholar

21 

Habano W, Nakamura S and Sugai T: Microsatellite instability in the mitochondrial DNA of colorectal carcinomas: evidence for mismatch repair systems in mitochondrial genome. Oncogene. 17:1931–1937. 1998. View Article : Google Scholar : PubMed/NCBI

22 

Liu VW, Shi HH, Cheung AN, et al: High incidence of somatic mitochondrial DNA mutations in human ovarian carcinomas. Cancer Res. 61:5998–6001. 2001.PubMed/NCBI

23 

Slaska B, Grzybowska-Szatkowska L, Surdyka M, Nisztuk S, Rozanska D, Rozanski P, Smiech A and Orzelski M: Mitochondrial D-loop mutations and polymorphisms are connected with canine malignant cancers. Mitochondrial DNA. 25:238–243. 2014. View Article : Google Scholar : PubMed/NCBI

24 

Slaska B, Grzybowska-Szatkowska L, Nisztuk S, Surdyka M and Rozanska D: Mitochondrial DNA polymorphism in genes encoding ND1, COI and CYTB in canine malignant cancers. Mitochondrial DNA. Oct 9–2013. View Article : Google Scholar

25 

Hofhaus G and Gattermann N: Mitochondria harbouring mutant mtDNA - a cuckoo in the nest? Biol Chem. 380:871–877. 1999. View Article : Google Scholar : PubMed/NCBI

26 

Aikhionbare FO, Mehrabi S, Kumaresan K, Zavareh M, Olatinwo M, Odunsi K and Partridge E: Mitochondrial DNA sequence variants in epithelial ovarian tumor subtypes and stages. J Carcinog. 6:12007. View Article : Google Scholar : PubMed/NCBI

27 

Czarnecka AM, Krawczyk T, Zdrozny M, et al: Mitochondrial NADH-dehydrogenase subunit 3 (ND3) polymorphism (A10398G) and sporadic breast cancer in Poland. Breast Cancer Res Treat. 121:511–518. 2010. View Article : Google Scholar : PubMed/NCBI

28 

Setiawan VW, Chu LH, John EM, et al: Mitochondrial DNA G10398A variant is not associated with breast cancer in African-American women. Cancer Genet Cytogenet. 181:16–19. 2008. View Article : Google Scholar : PubMed/NCBI

29 

Liu VW, Wang Y, Yang HJ, et al: Mitochondrial DNA variant 16189T>C is associated with susceptibility to endometrial cancer. Hum Mutat. 22:173–174. 2003.

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Grzybowska-Szatkowska L, Ślaska B, Rzymowska J, Brzozowska A and Floriańczyk B: Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer. Mol Med Rep 10: 1772-1778, 2014.
APA
Grzybowska-Szatkowska, L., Ślaska, B., Rzymowska, J., Brzozowska, A., & Floriańczyk, B. (2014). Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer. Molecular Medicine Reports, 10, 1772-1778. https://doi.org/10.3892/mmr.2014.2471
MLA
Grzybowska-Szatkowska, L., Ślaska, B., Rzymowska, J., Brzozowska, A., Floriańczyk, B."Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer". Molecular Medicine Reports 10.4 (2014): 1772-1778.
Chicago
Grzybowska-Szatkowska, L., Ślaska, B., Rzymowska, J., Brzozowska, A., Floriańczyk, B."Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer". Molecular Medicine Reports 10, no. 4 (2014): 1772-1778. https://doi.org/10.3892/mmr.2014.2471
Copy and paste a formatted citation
x
Spandidos Publications style
Grzybowska-Szatkowska L, Ślaska B, Rzymowska J, Brzozowska A and Floriańczyk B: Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer. Mol Med Rep 10: 1772-1778, 2014.
APA
Grzybowska-Szatkowska, L., Ślaska, B., Rzymowska, J., Brzozowska, A., & Floriańczyk, B. (2014). Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer. Molecular Medicine Reports, 10, 1772-1778. https://doi.org/10.3892/mmr.2014.2471
MLA
Grzybowska-Szatkowska, L., Ślaska, B., Rzymowska, J., Brzozowska, A., Floriańczyk, B."Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer". Molecular Medicine Reports 10.4 (2014): 1772-1778.
Chicago
Grzybowska-Szatkowska, L., Ślaska, B., Rzymowska, J., Brzozowska, A., Floriańczyk, B."Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer". Molecular Medicine Reports 10, no. 4 (2014): 1772-1778. https://doi.org/10.3892/mmr.2014.2471
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team