Preview

Fundamental and Clinical Medicine

Advanced search

Mitochondrial DNA polymorphisms in individuals died from sudden cardiac death

https://doi.org/10.23946/2500-0764-2019-4-4-64-69

Abstract

Aim. To identify associations of mtDNA polymorphisms with sudden cardiac death.

Materials and Methods. DNA was isolated from the cardiac tissue excised during the autopsy from individuals who died from sudden cardiac death (n = 260). The frequencies of the most common European mtDNA haplogroups (H, U, T and J) were determined using restriction fragment length polymorphism analysis. In addition, we performed a comparative analysis using previously published data on mtDNA polymorphisms in the West Siberian population.

Results. The distribution of mtDNA haplogroups in the patients who died from sudden cardiac death was similar as in the general population: 40% for haplogroup H, 23% for haplogroup U, 12% for haplogroup T and 6.5% for haplogroup J. We found no significant differences regarding the frequency of mtDNA haplogroups in individuals who died from sudden cardiac death and the population level.

Conclusion. We discovered no associations of H, U, T, and J mtDNA haplogroups with sudden cardiac death. These results indicate the necessity of a detailed analysis of mitochondrial genome to determine mtDNA variants associated with sudden cardiac death.

About the Authors

M. V. Golubenko
Research Institute for Complex Issues of Cardiovascular Diseases; Research Institute of Medical Genetics
Russian Federation

Dr. Maria V. Golubenko, PhD, Senior Researcher, Laboratory for Population Genetics, Research Institute of Medical Genetics, Tomsk State Research Centre; Leading Researcher, Laboratory for Genomic Medicine, Division of Experimental and Clinical Cardiology, Research Institute for Complex Issues of Cardiovascular Diseases

10, Naberezhnaya Reki Ushayki, Tomsk, 634090,

6, Sosnovy Boulevard, Kemerovo, 650002



A. V. Tsepokina
Research Institute for Complex Issues of Cardiovascular Diseases
Russian Federation

Ms. Anna V. Tsepokina, Junior Researcher, Laboratory for Genomic Medicine, Division of Experimental and Clinical Cardiology

6, Sosnovy Boulevard, Kemerovo, 650002



R. R. Salakhov
Research Institute of Medical Genetics
Russian Federation

Dr. Ramil R. Salakhov, MD, PhD, Research Fellow, Laboratory for Population Genetics, Research Institute of Medical Genetics, Tomsk State Research Centre

10, Naberezhnaya Reki Ushayki, Tomsk, 634090,



V. N. Maksimov
Research Institute of Therapy and Preventive Medicine within the Research Institute of Cytology and Genetics
Russian Federation

Dr. Vladimir N. Maksimov, MD, DSc, Head of the Laboratory for Molecular Genetics of Internal Diseases

175/1, Borisa Bogatkova Street, Novosibirsk, 630090



A. A. Gurazheva
Research Institute of Therapy and Preventive Medicine within the Research Institute of Cytology and Genetics
Russian Federation

Ms. Anna A. Gurazheva, Junior Researcher, Laboratory for Molecular Genetics of Internal Diseases

175/1, Borisa Bogatkova Street, Novosibirsk, 630090



B. A. Tkhorenko
Research Institute for Complex Issues of Cardiovascular Diseases
Russian Federation

Mr. Boris A. Tkhorenko, Research Technician, Laboratory for Genomic Medicine, Division of Experimental and Clinical Cardiology

6, Sosnovy Boulevard, Kemerovo, 650002



A. V. Ponasenko
Research Institute for Complex Issues of Cardiovascular Diseases
Russian Federation

Dr. Anastasia V. Ponasenko, MD, PhD, Head of the Laboratory for Genomic Medicine, Division of Experimental and Clinical Cardiology

6, Sosnovy Boulevard, Kemerovo, 650002



References

1. Buxton AE, Waks JW, Shen C, Chen PS. Risk stratification for sudden cardiac death in North America – current perspectives. J Electrocardio. 2016;49(6):817-823. DOI: 10.1016/j.jelectrocard.2016.07.018

2. Shljahto EV, Arutjunov GP, Belenkov JuN, Ardashev AV. Nacional'nye rekomendacii po opredeleniju riska i profilaktike vnezapnoj serdechnoj smerti. The Russian Archives of Internal Medicine. 2013;(4):5-15. (In Russ.). DOI: 10.20514/2226-6704-2013-0-4-5-15

3. Afanasyev SA, Golubenko MV, Tsapko LP, Puzyrev VP. Mitochondrial dna polymorphism and pathogenetics of sudden cardiac death (review). The Bulletin of Siberian Branch of Academy of Medical Sciences of the USSR. 2018;38(6):49-56. (In Russ.). DOI: 10.15372/SSMJ20180608

4. Ashar FN, Zhang Y, Longchamps RJ, Lane J, Moes A, Grove ML, Mychaleckyj JC, Taylor KD, Coresh J, Rotter JI, Boerwinkle E, Pankratz N, Guallar E, Arking DE. Association of mitochondrial DNA copy number with cardiovascular disease. JAMA cardiology. 2017;2(11):1247-1255. DOI: 10.1001/jamacardio.2017.3683

5. Maksimov VN, Gurazheva AA, Maksimova YuV. Number of copies of mitochondrial dna of leukocytes as a marker of predisposition to coronary heart disease and sudden cardiac death. Ateroskleroz. 2018;3:64-69. (In Russ.). DOI: 10.15372/ATER20180310

6. Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, Savontaus ML, Wallace DC. Classification of European mtDNAs from an analysis of three European populations. Genetics.1996;144(4):1835-1850.

7. Wallace DC. Mitochondrial DNA Variation in Human Radiation and Disease. Cell. 2015;163(1): 33-38. DOI: 10.1016/j.cell.2015.08.067

8. Kenney MC, Chwa M, Atilano SR, Falatoonzadeh P, Ramirez C, Malik D. Tarek M, Del Carpio JC, Nesburn AB, Boyer DS, Kuppermann BD, Vawter MP, Jazwinski SM, Miceli MV, Wallace DC, Udar N. 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

9. Ponasenko AV, Tsepokina AV, Tkhorenko BA, Golubenko MV, Gubieva EK, Trephilova LP. Variability of mitochondrial DNA in the development of atherosclerosis and myocardial infarction (a review). Complex Issues of Cardiovascular Diseases. 2018;7(4S):75-85. (In Russ.). DOI: 10.17802/2306-1278-2018-7-4S-75-85

10. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet. 1999;23(2):147. DOI:10.1038/13779

11. Golubenko MV, Salakhov RR, Makeeva OA, Goncharova IA, Kashtalap VV, Barbarash OL, Puzyrev VP. Mitochondrial DNA Polymorphism Association With Myocardial Infarction and Prognostic Signs for Atherosclerosis. Molecular biology. 2015;49(6):968-977. (In Russ.). DOI:10.7868/S0026898415050080

12. Golubenko MV, Tarasenko NV, Makeeva OA, Goncharova IA, Markov AV, Sleptsov AA, Komar A.A., Nazarenko MS, Barbarash OL, Puzyrev VP. Mitochondrial DNA polymorphism in advanced carotid atherosclerosis: protective effect of haplogroup. J Medical Genetics. 2017;16(10):26-28.(In Russ.).

13. Mazunin IO, Volod'ko NV, Starikovskaia EB, Sukernik RI. Mitochondrial Genome and Human Mitochondrial Disease. Mol Biol (Mosk). 2010;44(5):755-772. (In Russ.).

14. Castro MG, Huerta C, Reguero JR, Soto MI, Doménech E, Al varez V, Gómez-Zaera M, Nunes V, González P, Corao A, Coto E. Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy. Int J Cardiol. 2006;112(2):202-206. DOI: 10.1016/j.ijcard.2005.09.008

15. Kytövuori L, Junttila J, Huikuri H, Keinänen-Kiukaanniemi S, Majamaa K, Martikainen MH. Mitochondrial DNA variation in sudden cardiac death: a population-based study. International journal of legal medicine. 2019:1-6. DOI: 10.1007/s00414-01902091-4

16. Santoro A, Balbi V, Balducci E, Pirazzini C, Rosini F, Tavano F. Achilli A, Siviero P, Minicuci N, Bellavista E, Mishto M, Salvioli S, Marchegiani F, Cardelli M, Olivieri F, Nacmias B, Chiamenti AM, Benussi L, Ghidoni R, Rose G, Gabelli C, Binetti G, Sorbi S, Crepaldi G, Passarino G, Torroni A, Franceschi C. Evidence for sub-haplogroup H5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease. PLoS One. 2010;5(8):e12037. DOI: 10.1371/journal.pone.0012037


Review

For citations:


Golubenko M.V., Tsepokina A.V., Salakhov R.R., Maksimov V.N., Gurazheva A.A., Tkhorenko B.A., Ponasenko A.V. Mitochondrial DNA polymorphisms in individuals died from sudden cardiac death. Fundamental and Clinical Medicine. 2019;4(4):64-69. (In Russ.) https://doi.org/10.23946/2500-0764-2019-4-4-64-69

Views: 1044


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2500-0764 (Print)
ISSN 2542-0941 (Online)