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Prevalence of MYBPC3 Gene Mutations in Russian Patients with Hypertrophic Cardiomyopathy

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Abstract

Hypertrophic cardiomyopathy (HCM) is considered the most common inherited heart disease. HCM is a highly heterogeneous disease from the genetic point of view. However, the cause of the disease remains unclear, despite the large number of pathogenic variants detected in more than a quarter of patients. Therefore, studying the prevalence of pathogenic variants associated with HCM especially in the Russian population is still relevant. In this context, the objective of the research survey was to assess the contribution of pathogenic variants rs200411226 and rs397515905 in the MYBPC3 gene, leading to substitutions R495Q, R495W, and R495G, to the development of HCM in the Russian population. The sample included 224 patients with HCM of varying severity. The genotypes of variants rs200411226 (NM_000256.3:c.1484G>A) and rs397515905 (NM_000256.3:c.1483C>T/G)) in the MYBPC3 gene (R495Q, R495W, and R495G) were analyzed for all the patients with real-time PCR. The survey analysis of the prevalence of these pathogenic variants has shown that the R495Q and R495W mutations in the survey sample occur with a frequency of 0.4% for each mutation, which is generally comparable with the frequencies of these pathogenic variants in the other populations. In addition, R495Q and R495W mutations do not appear to cause a severe form of the disease. Survey testing failed to identify the R495G pathogenic variant in the survey sample of HCM patients. Therefore, these mutations themselves as a cause for HCM progression do not have any significant prevalence among the Russian population.

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Funding

The research survey was carried out with the financial support of the Russian Science Foundation, grant no. 22-15-00243.

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Authors and Affiliations

  1. Institute of Molecular Genetics, National Research Centre “Kurchatov Institute,” National Research Center, 123182, Moscow, Russia

    A. L. Klass, I. N. Vlasov, M. I. Shadrina, P. A. Slominsky & E. V. Filatova

  2. Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, 117997, Moscow, Russia

    N. S. Krylova, M. Yu. Maslova & N. G. Poteshkina

  3. City Clinic no. 52, Moscow Department of Health, 123182, Moscow, Russia

    N. S. Krylova, E. A. Kovalevskaya & N. G. Poteshkina

  4. Petrovsky Russian Science Center for Surgery, State Science Center of the Russian Federation, 119991, Moscow, Russia

    A. V. Lysenko & G. I. Salagaev

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  1. A. L. Klass
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  2. N. S. Krylova
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  10. P. A. Slominsky
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Correspondence to E. V. Filatova.

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The authors declare that they have no conflicts of interest.

Written informed consent accepted according to the ethical principles established by the Declaration of Helsinki to participate in the research was obtained from every research participant and his or her family members. The research survey was carried out with the approval of the Research Ethics Committee, Pirogov Russian National Research Medical University (approval protocol no. 139 as of November 10, 2014). The written informed consent for publications was obtained from every research participant and his or her family members.

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Translated by O. Zhiryakova

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Klass, A.L., Krylova, N.S., Lysenko, A.V. et al. Prevalence of MYBPC3 Gene Mutations in Russian Patients with Hypertrophic Cardiomyopathy. Mol. Genet. Microbiol. Virol. 38, 16–20 (2023). https://doi.org/10.3103/S0891416823010068

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