Rare Mutations V453X and Y847X in the MYBPC3 Gene Do Not Lead to a Severe Form of Hypertrophic Cardiomyopathy in the Russian Population

Pub Date : 2024-03-20 DOI:10.3103/s0891416823040043

A. L. Klass, N. S. Krylova, A. V. Lysenko, I. N. Vlasov, M. Yu. Maslova, G. I. Salagaev, E. A. Kovalevskaya, N. G. Poteshkina, M. I. Shadrina, P. A. Slominsky, E. V. Filatova

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Abstract

Mutations in the MYBPC3 gene are currently believed to lead to the development of hypertrophic cardiomyopathy (HCM) in the majority of genetically determined cases. However, despite many years of research, both in worldwide and in Russia in particular, the genetic landscape of HCM is still insufficiently studied. Moreover, the insufficient study of genetically determined cases of HCM in the Russian population does not allow us to study the possible relation of the phenotypic characteristics of HCM patients with certain pathogenic variants of the genome of these patients. In this regard, the purpose of our work was to study the prevalence of rare pathogenic variants rs730880711 and rs397515974 of the MYBPC3 gene in HCM patients from Russia and to assess the effect of these mutations on the severity of this disease. The sample included 180 patients with moderate HCM and 137 patients with severe HCM. Analysis of the genotypes of rs730880711 (NC_000011.10:g.47342928_47342929insG; V453X) and rs397515974 (NC_000011.10:g.47337452G>C; Y847X) variants in the MYBPC3 gene was carried out in genomic DNA samples isolated from peripheral blood by real-time PCR. The performed analysis of the prevalence of rare pathogenic variants rs730880711 and rs397515974 in the MYBPC3 gene in patients with moderate and severe forms of HCM from Russia showed that the frequency of each mutation was 0.003. Both pathogenic variants were identified in individuals with the moderate disease. Thus, the indicated mutations are extremely rare in HCM patients from Russia and do not make a significant contribution to the development of this disease in the Russian population.

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俄罗斯人群中的 MYBPC3 基因 V453X 和 Y847X 罕见突变不会导致严重的肥厚型心肌病

摘要 MYBPC3 基因突变目前被认为是导致肥厚型心肌病（HCM）发生的主要基因决定因素。然而，尽管全世界，特别是俄罗斯进行了多年的研究，但对肥厚性心肌病的遗传情况仍然研究不足。此外，由于对俄罗斯人群中 HCM 基因确定病例的研究不足，我们无法研究 HCM 患者的表型特征与这些患者基因组中某些致病变异的可能关系。为此，我们的工作旨在研究俄罗斯 HCM 患者中 MYBPC3 基因罕见致病变异 rs730880711 和 rs397515974 的患病率，并评估这些变异对该疾病严重程度的影响。样本包括 180 名中度 HCM 患者和 137 名重度 HCM 患者。在从外周血分离的基因组 DNA 样本中，通过实时 PCR 分析了 MYBPC3 基因中 rs730880711（NC_000011.10:g.47342928_47342929insG; V453X）和 rs397515974（NC_000011.10:g.47337452G>C; Y847X）变异的基因型。对俄罗斯中度和重度 HCM 患者中 MYBPC3 基因罕见致病变异 rs730880711 和 rs397515974 的患病率进行的分析表明，每个变异的频率为 0.003。这两种致病变异都是在中度疾病患者中发现的。因此，上述变异在俄罗斯的 HCM 患者中极为罕见，对该疾病在俄罗斯人群中的发展并无重大影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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