The role of mitochondria in the development of breast cancer
- 作者: Tikhonov D.1, Vinokurov M.1, Kipriyanova N.1, Golubenko M.2
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隶属关系:
- M. K. Ammosov North-Eastern Federal University
- Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
- 期: 卷 27, 编号 1 (2022)
- 页面: 5-19
- 栏目: Reviews
- URL: https://journals.rcsi.science/1028-9984/article/view/133128
- DOI: https://doi.org/10.17816/onco110904
- ID: 133128
如何引用文章
详细
There is a hypothesis that mitochondrial dysfunction and mutations in the mitochondrial genome may play an important role in the carcinogenesis; however, despite many years of research, this issue is still the subject of scientific discussion. The review reflects modern views on the role of mitochondria and the mitochondrial genome in the development of breast cancer. Sources were searched in Pubmed and eLIBRARY.RU databases for the past 10 years and in article references. Articles were selected that contained data from case-control studies of breast cancer and studies of cybrid cells.
The survey of experimental and association studies has shown that the mitochondrial genome determines the characteristics of cellular metabolism in human populations at the global (by macrohaplogroups L, M, N), landscape (by haplogroups), population (by subhaplogroups), and individual levels (by SNPs, insertions, deletions) and can determine predisposition to cancer. Single nucleotide substitutions, deletions, and mitochondrial DNA copy number decline are not specific for breast cancer. Nevertheless, mitochondria have been experimentally shown to be directly involved in the development of malignant neoplasms in experimental animals. It is likely that mitochondrial involvement in carcinogenesis is associated with mitochondrial dysfunction, in which nuclear-mitochondrial relationships are disrupted. On the other hand, mutations with too strong effect, i.e., completely disrupting mitochondrial function, lose their tumorigenic potential. Mutations, deletions and changes in mitochondrial DNA copy number are undoubtedly associated with the development of breast cancer, being one of the most important elements of a complex web of numerous interactions.
作者简介
Dmitrii Tikhonov
M. K. Ammosov North-Eastern Federal University
编辑信件的主要联系方式.
Email: tikhonov.dmitri@yandex.ru
ORCID iD: 0000-0003-3385-9471
SPIN 代码: 5271-4123
Dr. Sci. (Med.), Professor
俄罗斯联邦, 58 Belinskogo street, 677000 YakutskMikael Vinokurov
M. K. Ammosov North-Eastern Federal University
Email: mm.vinokurov@s-vfu.ru
ORCID iD: 0000-0002-1235-6560
SPIN 代码: 8895-6455
Dr. Sci. (Med.), Professor
俄罗斯联邦, 58 Belinskogo street, 677000 YakutskNadezhda Kipriyanova
M. K. Ammosov North-Eastern Federal University
Email: kiprinad2@mail.ru
Dr. Sci. (Med.)
俄罗斯联邦, 58 Belinskogo street, 677000 YakutskMaria Golubenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Email: maria-golubenko@medgenetics.ru
ORCID iD: 0000-0002-7692-9954
SPIN 代码: 5117-3684
Cand. Sci. (Biol.)
俄罗斯联邦, Tomsk参考
- Warburg O. On the origin of cancer cells. Science. 1956;123(3191):309–314. doi: 10.1126/science.123.3191.309
- Panov AV, Golubenko MV, Darenskaya MA, Kolesnikov SI. The origin of mitochondria and their role in the evolution of life and human health. Acta Biomedica Scientifica. 2020;5(5):12–25. (In Russ). doi: 10.29413/ABS.2020-5.5.2
- Osellame LD, Blacker TS, Duchen MR. Cellular and molecular mechanisms of mitochondrial function. Best Pract Res Clin Endocrinol Metab. 2012;26(6):711–723. doi: 10.1016/j.beem.2012.05.003
- Miller FJ, Rosenfeldt FL, Zhang C, et al. Precise determination of mitochondrial DNA copy number in human skeletal and cardiac muscle by a PCR-based assay: lack of change of copy number with age. Nucleic Acids Res. 2003;31(11):e61. doi: 10.1093/nar/gng060
- Rath S, Sharma R, Gupta R, et al. MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations. Nucleic Acids Res. 2021;49(D1):D1541–D1547. doi: 10.1093/nar/gkaa1011
- Andrews RM, Kubacka I, Chinnery PF, et al. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet. 1999;23(2):147. doi: 10.1038/13779
- Nicholls TJ, Minczuk M. In D-loop: 40 years of mitochondrial 7S DNA. Exp Gerontol. 2014;56:175–181. doi: 10.1016/j.exger.2014.03.027
- Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature. 1981;290(5806):457–465. doi: 10.1038/290457a0
- Jones DP, Lash LH. Introduction: criteria for assessing normal and abnormal mitochondrial function. Mitochondrial Dysfunction. 1993. P. 1–7.
- Senyilmaz D, Teleman AA. Chicken or the egg: Warburg effect and mitochondrial dysfunction. F1000Prime Rep. 2015;7:41. doi: 10.12703/P7-41
- Blohin NN, Peterson BE. Klinicheskaja onkologija. T. 1. Moscow; 1979. 696 p. (In Russ).
- Burck KB, Liu ET, Larrick JW. Oncogenes. London, Paris, Tokyo: Springer-Verlag; 1988. 311 p.
- Fujimura JH. The molecular biological bandwagon in cancer research: where social worlds meet. Social Problems. 1988;35(3):261–283. doi: 10.2307/800622
- Bret S. Fighting cancer by putting tumor cells on a diet [Internet]. NPR, 2016. [cited 2022 Jun 29]. Available from: https://www.iowapublicradio.org/2016-03-05/fighting-cancer-by-putting-tumor-cells-on-a-diet
- Seyfried T. Cancer as a metabolic disease : on the origin, management, and prevention of cancer. John Wiley & Sons; 2012. 448 p.
- Gyamfi J, Kim J, Choi J. Cancer as a metabolic disorder. Int J Mol Sci. 2022;23(3):1155. doi: 10.3390/ijms23031155
- Majérus M-A. The cause of cancer: the unifying theory. Advances in Cancer Biology — Metastasis. 2022;4:100034. doi: 10.1016/j.adcanc.2022.100034
- Majerus MA. The relationship between the cancer cell and the oocyte. Med Hypotheses. 2002;58(6):544–551. doi: 10.1054/mehy.2001.1532
- Cercek A, Lumish M, Sinopoli J, et al. PD-1 blockade in mismatch repair-deficient, locally advanced rectal cancer. N Engl J Med. 2022;386(25):2363–2376. doi: 10.1056/NEJMoa2201445
- Brandon M, Baldi P, Wallace DC. Mitochondrial mutations in cancer. Oncogene. 2006;25(34):4647–4662. doi: 10.1038/sj.onc.1209607
- Kopinski PK, Singh LN, Zhang S, et al. Mitochondrial DNA variation and cancer. Nat Rev Cancer. 2021;21(7):431–445. doi: 10.1038/s41568-021-00358-w
- Jiménez-Morales S, Pérez-Amado CJ, Langley E, Hidalgo-Miranda A. Overview of mitochondrial germline variants and mutations in human disease: focus on breast cancer (review). Int J Oncol. 2018;53(3):923–936. doi: 10.3892/ijo.2018.4468
- Weerts MJA, Sleijfer S, Martens JWM. The role of mitochondrial DNA in breast tumors. Drug Discov Today. 2019;24(5):1202–1208. doi: 10.1016/j.drudis.2019.03.019
- Salas A, Yao YG, Macaulay V, et al. A critical reassessment of the role of mitochondria in tumorigenesis. PLoS Med. 2005;2(11):e296. doi: 10.1371/journal.pmed.0020296
- Baysal B. Mitochondria: more than mitochondrial DNA in cancer. PLoS Med. 2006;3(3):e156. doi: 10.1371/journal.pmed.0030156
- Zanssen S, Schon EA. Mitochondrial DNA mutations in cancer. PLoS Med. 2005;2(11):e401. doi: 10.1371/journal.pmed.0020401
- Elliott RL, Jiang XP, Head JF. Mitochondria organelle transplantation: introduction of normal epithelial mitochondria into human cancer cells inhibits proliferation and increases drug sensitivity. Breast Cancer Res Treat. 2012;136(2):347–354. doi: 10.1007/s10549-012-2283-2
- DiMauro S, Schon EA. Mitochondrial DNA mutations in human disease. Am J Med Genet. 2001;106(1):18–26. doi: 10.1002/ajmg.1392
- McFarland R, Elson JL, Taylor RW, et al. Assigning pathogenicity to mitochondrial tRNA mutations: when ‘definitely maybe’ is not good enough. Trends Genet. 2004;20(12):591–596. doi: 10.1016/j.tig.2004.09.014
- Canter JA, Kallianpur AR, Parl FF, Millikan RC. Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African–American women. Cancer Res. 2005;65(17):8028–8033. doi: 10.1158/0008-5472.CAN-05-1428
- Salas A, García-Magariños M, Logan I, Bandelt H-J. The saga of the many studies wrongly associating mitochondrial DNA with breast cancer. BMC Cancer. 2014;14:659. doi: 10.1186/1471-2407-14-659
- Czarnecka AM, Krawczyk T, Plak K, et al. Mitochondrial genotype and breast cancer predisposition. Oncol Rep. 2010;24(6):1521–1534. doi: 10.3892/or-00001014
- Tommasi S, Favia P, Weigl S, et al. Mitochondrial DNA variants and risk of familial breast cancer: an exploratory study. Int J Oncol. 2014;44(5):1691–1698. doi: 10.3892/ijo.2014.2324
- Tipirisetti NR, Govatati S, Pullari P, et al. Mitochondrial control region alterations and breast cancer risk: a study in south Indian population. PLoS One. 2014;9(1):e85363. doi: 10.1371/journal.pone.0085363
- Yacoubi Loueslati B, Troudi W, Cherni L, et al. Germline HVR-II mitochondrial polymorphisms associated with breast cancer in Tunisian women. Genet Mol Res. 2010;9(3):1690–1700. doi: 10.4238/vol9-3gmr778
- Mosquera-Miguel A, Álvarez-Iglesias V, Carracedo Á, et al. Is mitochondrial DNA variation associated with sporadic breast cancer risk? Cancer Res. 2008;68(2):623–625. doi: 10.1158/0008-5472.CAN-07-2385
- Bai R-K, Leal SM, Covarrubias D, et al. Mitochondrial genetic background modifies breast cancer risk. Cancer Res. 2007;67(10):4687–4694. doi: 10.1158/0008-5472.CAN-06-3554
- Fang H, Shen L, Chen T, et al. Cancer type-specific modulation of mitochondrial haplogroups in breast, colorectal and thyroid cancer. BMC Cancer. 2010;10:421. doi: 10.1186/1471-2407-10-421
- Darvishi K, Sharma S, Bhat AK, et al. Mitochondrial DNA G10398A polymorphism imparts maternal Haplogroup N a risk for breast and esophageal cancer. Cancer Lett. 2007;249(2):249–255. doi: 10.1016/j.canlet.2006.09.005
- Gazi N, Rahman A, Karim MM, et al. Breast cancer risk associated mitochondrial NADH-dehydrogenase subunit-3 (ND3) polymorphisms (G10398A and T10400C) in Bangladeshi women. J Med Genet Genomics. 2011;3(8):131–135. doi: 10.5897/JMGG.9000007
- Czarnecka AM, Krawczyk T, Zdrożny M, et al. Mitochondrial NADH-dehydrogenase subunit 3 (ND3) polymorphism (A10398G) and sporadic breast cancer in Poland. Breast Cancer Res Treat. 2010;121(2):511–518. doi: 10.1007/s10549-009-0358-5
- Tengku Baharudin N, Jaafar H, Zainuddin Z. Association of mitochondrial DNA 10398 polymorphism in invasive breast cancer in Malay population of Peninsular Malaysia. Malaysian J Med Sci. 2012;19(1):36–42.
- Jahani MM, Azimi Meibody A, Karimi T, et al. An A10398G mitochondrial DNA alteration is related to increased risk of breast cancer, and associates with Her2 positive receptor. Mitochondrial DNA A DNA Mapp Seq Anal. 2020;31(1):11–16. doi: 10.1080/24701394.2019.1695788
- Covarrubias D, Bai RK, Wong LC, Leal SM. Mitochondrial DNA variant interactions modify breast cancer risk. J Hum Genet. 2008;53(10):924–928. doi: 10.1007/s10038-008-0331-x
- Ma L, Fu Q, Xu B, et al. Breast cancer-associated mitochondrial DNA haplogroup promotes neoplastic growth via ROS-mediated AKT activation. Int J Cancer. 2018;142(9):1786–1796. doi: 10.1002/ijc.31207
- Bonilla C, Bertoni B, Hidalgo PC, et al. Breast cancer risk and genetic ancestry: a case-control study in Uruguay. BMC Womens Health. 2015;15(1):1–10. doi: 10.1186/s12905-015-0171-8
- Francis A, Pooja S, Rajender S, et al. A mitochondrial DNA variant 10398G>A in breast cancer among South Indians: an original study with meta-analysis. Mitochondrion. 2013;13(6):559–565. doi: 10.1016/j.mito.2013.08.004
- Pisareva LF, Odintsova IN, Ivanov PM, Nikolaeva TI. Breast cancer incidence among indigenous peoples and newcomers in Sakha Republic (Yakutia). Siberian Journal of Oncology. 2007;(3):69–72. (In Russ).
- Zhou H, Nie K, Qiu R, et al. Generation and bioenergetic profiles of cybrids with East Asian mtDNA haplogroups. Oxid Med Cell Longev. 2017;2017:1062314. doi: 10.1155/2017/1062314
- Bunn CL, Wallace DC, Eisenstadt JM. Cytoplasmic inheritance of chloramphenicol resistance in mouse tissue culture cells. Proc Natl Acad Sci U S A. 1974;71(5):1681–1685. doi: 10.1073/pnas.71.5.1681
- Cruz-Bermúdez A, Vallejo CG, Vicente-Blanco RJ, et al. Enhanced tumorigenicity by mitochondrial DNA mild mutations. Oncotarget. 2015;6(15):13628–13643. doi: 10.18632/oncotarget.3698
- Sazonova MA, Sinyov VV, Ryzhkova AI, et al. Cybrid models of pathological cell processes in different diseases. Oxid Med Cell Longev. 2018;2018:4647214. doi: 10.1155/2018/4647214
- Kenney MC, Chwa M, Atilano SR, et al. Molecular and bioenergetic differences between cells with African versus European inherited mitochondrial DNA haplogroups: implications for population susceptibility to diseases. Biochim Biophys Acta. 2014;1842(2):208–219. doi: 10.1016/j.bbadis.2013.10.016
- Kazuno A, Munakata K, Nagai T, et al. Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics. PLoS Genet. 2006;2(8):e128. doi: 10.1371/journal.pgen.0020128
- Gómez-Durán A, Pacheu-Grau D, López-Gallardo E, et al. Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups. Hum Mol Genet. 2010;19(17):3343–3353. doi: 10.1093/hmg/ddq246
- Suissa S, Wang Z, Poole J, et al. Ancient mtDNA genetic variants modulate mtDNA transcription and replication. PLoS Genet. 2009;5(5):e1000474. doi: 10.1371/journal.pgen.1000474
- Mueller EE, Brunner SM, Mayr JA, et al. Functional differences between mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells. PLoS One. 2012;7(12):e52367. doi: 10.1371/journal.pone.0052367
- Pérez-Amado CJ, Tovar H, Gómez-Romero L, et al. Mitochondrial DNA mutation analysis in breast cancer: shifting from germline heteroplasmy toward homoplasmy in tumors. Front Oncol. 2020;10:572954. doi: 10.3389/fonc.2020.572954
- Ju YS, Alexandrov LB, Gerstung M, et al. Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer. Elife. 2014;3:e02935. doi: 10.7554/eLife.02935
- Nie H, Chen G, He J, et al. Mitochondrial common deletion is elevated in blood of breast cancer patients mediated by oxidative stress. Mitochondrion. 2016;26:104–112. doi: 10.1016/j.mito.2015.12.001
- Grasso D, Zampieri LX, Capelôa T, et al. Mitochondria in cancer. Cell Stress. 2020;4(6):114–146. doi: 10.15698/cst2020.06.221
- Rong Z, Tu P, Xu P, et al. The mitochondrial response to DNA damage. Front cell Dev Biol. 2021;9:669379. doi: 10.3389/fcell.2021.669379
- Lopez J, Tait SWG. Mitochondrial apoptosis: killing cancer using the enemy within. Br J Cancer. 2015;112(6):957–962. doi: 10.1038/bjc.2015.85