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<p><b>Goal.</b> Hypertrophic cardiomyopathy (HCM) is one of the most prevalent myocardial diseases with a population frequency of 1 : 500—1 : 200. HCM is characterized by severe left ventricular hypertrophy (LVH), sometimes accompanied by outflow tract obstruction. Clinical manifestations of HCM range from minimal myocardial dysfunction to progressive heart failure (HF) and sudden cardiac death (SCD). This disease is characterized by significant genetic heterogeneity; moreover, 60–70% of pathogenetically significant variants identified in patients reside in myosin-binding protein C (<i>MYBPC3</i>) and myosin heavy chain (<i>MYH7</i>) genes. Furthermore, in 40% of patients with a clinical diagnosis of HCM, no mutations in causal genes are detected, nor is there a family history of the disease. One existing approach to studying the etiopathogenesis of HCM is the study of hypertrophied myocardium, and in this connection the aim of the present work was to analyze gene expression in myocardial tissues in patients with HCM. <b>Materials and methods.</b> In this study, we analyzed the transcriptome of myocardial tissues from patients with severe HCM undergoing surgical septal reduction therapy using whole transcriptome sequencing and real-time qRT-PCR. <b>Results.</b> Increased expression of the <i>PLCB1</i> and <i>ADAMTS10</i> genes was shown in hypertrophic myocardial tissue of patients with familial HCM compared to nonfamilial cases. <b>Conclusions.</b> Higher expression levels of <i>PLCB1</i> and <i>ADAMTS10</i> genes in patients with familial HCM can indicate the presence of specific molecular and genetic processes involved in both extracellular matrix remodeling and intracellular Gq-signaling.</p>

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Analysis of Differential Gene Expression in Myocardial Tissue from Patients with Hypertrophic Cardiomyopathy

  • 期刊论文

  • 发表日期：

    2025年3月1日

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  • A. L. Klass,
  • P. A. Slominsky,
  • I. N. Vlasov,
  • A. B. Chumakova,
  • M. I. Shadrina,
  • A. V. Lysenko,
  • G. I. Salagaev,
  • E. V. Filatova

摘要

Goal. Hypertrophic cardiomyopathy (HCM) is one of the most prevalent myocardial diseases with a population frequency of 1 : 500—1 : 200. HCM is characterized by severe left ventricular hypertrophy (LVH), sometimes accompanied by outflow tract obstruction. Clinical manifestations of HCM range from minimal myocardial dysfunction to progressive heart failure (HF) and sudden cardiac death (SCD). This disease is characterized by significant genetic heterogeneity; moreover, 60–70% of pathogenetically significant variants identified in patients reside in myosin-binding protein C (MYBPC3) and myosin heavy chain (MYH7) genes. Furthermore, in 40% of patients with a clinical diagnosis of HCM, no mutations in causal genes are detected, nor is there a family history of the disease. One existing approach to studying the etiopathogenesis of HCM is the study of hypertrophied myocardium, and in this connection the aim of the present work was to analyze gene expression in myocardial tissues in patients with HCM. Materials and methods. In this study, we analyzed the transcriptome of myocardial tissues from patients with severe HCM undergoing surgical septal reduction therapy using whole transcriptome sequencing and real-time qRT-PCR. Results. Increased expression of the PLCB1 and ADAMTS10 genes was shown in hypertrophic myocardial tissue of patients with familial HCM compared to nonfamilial cases. Conclusions. Higher expression levels of PLCB1 and ADAMTS10 genes in patients with familial HCM can indicate the presence of specific molecular and genetic processes involved in both extracellular matrix remodeling and intracellular Gq-signaling.