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Klass A.L.

National Research Centre “Kurchatov Institute”

Slominsky P.A.

National Research Centre “Kurchatov Institute”

Vlasov I.N.

National Research Centre “Kurchatov Institute”

Chumakova A.B.

National Research Centre “Kurchatov Institute”

Shadrina M.I.

National Research Centre “Kurchatov Institute”

Lysenko A.V.

Petrovsky Russian Scientific Center of Surgery

Salagaev G.I.

Petrovsky Russian Scientific Center of Surgery

Filatova E.V.

National Research Centre “Kurchatov Institute”

Analysis of differential gene expression in myocardial tissue from patients with hypertrophic cardiomyopathy

Authors:

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

More about the authors

Journal: Molecular Genetics, Microbiology and Virology. 2025;43(1): 17‑23

DOI: 10.17116/molgen20254301117

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Table of contents

ANALYSIS OF DIFFERENTIAL GENE EXPRESSION IN MYOCARDIAL TISSUE FROM PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY
ANALYSIS OF DIFFERENTIAL GENE EXPRESSION IN MYOCARDIAL TISSUE FROM PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY

To cite this article:

Klass AL, Slominsky PA, Vlasov IN, et al. . Analysis of differential gene expression in myocardial tissue from patients with hypertrophic cardiomyopathy. Molecular Genetics, Microbiology and Virology. 2025;43(1):17‑23. (In Russ.)
https://doi.org/10.17116/molgen20254301117

Подписка 2025-2 (Molecular Genetics, Microbiology and Virology)
 
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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 residing 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 of the existing approaches to studying the etiopathogenesis of HCM is the study of hypertrophied myocardium and in this connection the aim of the presented 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 PLCB1 and ADAMTS10 genes was shown in hypertrophic myocardial tissue of patients with familial HCM compared to non-familial cases.

CONCLUSION

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.

Keywords:

hypertrophic cardiomyopathy
cardiomyopathy
myocardium
hypertrophy
transcriptome
gene expression

Authors:

Klass A.L.

National Research Centre “Kurchatov Institute”

Slominsky P.A.

National Research Centre “Kurchatov Institute”

Vlasov I.N.

National Research Centre “Kurchatov Institute”

Chumakova A.B.

National Research Centre “Kurchatov Institute”

Shadrina M.I.

National Research Centre “Kurchatov Institute”

Lysenko A.V.

Petrovsky Russian Scientific Center of Surgery

Salagaev G.I.

Petrovsky Russian Scientific Center of Surgery

Filatova E.V.

National Research Centre “Kurchatov Institute”

Received:

25.11.2024

Accepted:

13.12.2024

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