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Mitochondrial genome variability in sudden cardiac death

https://doi.org/10.25557/2073-7998.2020.05.31-32

Abstract

We studied mitochondrial DNA polymorphism and mtDNA copy number in sudden cardiac death (SCD). In the SCD group, a lower mtDNA copy number was found in the myocardium. Analysis of mtDNA polymorphism revealed a higher frequency of H1 haplogroup in the SCD samples, compared with the population, as well as higher frequency of missense variant Ala177Thr in ATP6 gene in the group of cardiac arrest survivors. The results of the study suggest association of mtDNA polymorphism and mtDNA copy number with the risk of sudden cardiac death.

About the Authors

M. V. Golubenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


R. R. Salakhov
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


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


S. A. Afanasyev
Cardiology Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


E. F. Muslimova
Cardiology Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


T. Y. Rebrova
Cardiology Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


E. A. Archakov
Cardiology Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


E. V. Borisova
Cardiology Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


R. E. Batalov
Cardiology Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


V. N. Maximov
Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation


A. A. Ivanova
Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation


A. A. Gurazheva
Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation


P. S. Orlov
Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation


N. P. Babushkina
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


A. A. Zarubin
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


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


M. S. Nazarenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


V. P. Puzyrev
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation


Review

For citations:


Golubenko M.V., Salakhov R.R., Tsepokina A.V., Afanasyev S.A., Muslimova E.F., Rebrova T.Y., Archakov E.A., Borisova E.V., Batalov R.E., Maximov V.N., Ivanova A.A., Gurazheva A.A., Orlov P.S., Babushkina N.P., Zarubin A.A., Ponasenko A.V., Nazarenko M.S., Puzyrev V.P. Mitochondrial genome variability in sudden cardiac death. Medical Genetics. 2020;19(5):31-32. (In Russ.) https://doi.org/10.25557/2073-7998.2020.05.31-32

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ISSN 2073-7998 (Print)