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Updated: Nov 27, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[Hypertrophic Cardiomyopathy as an Oligogenic Disease: Transcriptomic Arguments]
N M Baulina1,2, I S Kiselev1, O S Chumakova1
1National Medical Research Center for Cardiology, Moscow, 121552 Russia.
Insights
Hypertrophic cardiomyopathy (HCM) is a complex genetic heart disease. Transcriptome analysis reveals altered gene expression, including non-coding RNAs, offering insights into HCM
Area of Science:
- Cardiovascular Genetics
- Molecular Biology
- Genomics
Background:
- Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease, traditionally viewed as monogenic.
- Emerging evidence suggests HCM is oligogenic, influenced by sarcomeric, non-sarcomeric, and regulatory RNA genes.
- Understanding gene expression is crucial for elucidating HCM's complex pathogenesis.
Purpose of the Study:
- To review differential gene expression in HCM myocardium and model animals.
- To highlight the role of non-coding RNAs (miRNAs and lncRNAs) in HCM pathogenesis.
- To assess the diagnostic and prognostic potential of blood-based miRNA biomarkers in HCM.
Main Methods:
- Systematic review of published transcriptome analyses in human and animal models of HCM.
- Analysis of studies investigating miRNA expression in HCM patient blood.
- Evaluation of gene expression profiles to identify molecular mechanisms.
Main Results:
- Differential gene expression is observed in the myocardium of HCM patients and models.
- Non-coding RNAs, including miRNAs and lncRNAs, are implicated in HCM pathogenesis.
- Blood miRNA levels show potential as diagnostic and prognostic biomarkers for HCM.
Conclusions:
- Transcriptome profiling is an effective approach for studying HCM molecular mechanisms.
- Non-coding RNAs represent a significant area for further HCM research.
- Further investigation into blood-based biomarkers could improve HCM diagnosis and management.
Abstract:
Hypertrophic cardiomyopathy (HCM) is the most common genetically determined heart pathology and is often accompanied by fatal complications. Today, the traditional view of the monogenic origin of HCM is being replaced by the idea of it as an oligogenic disease, the clinical phenotype of which is determined not only by mutations in the genes encoding sarcomere proteins in cardiomyocytes, but also by the contribution of other genes (other sarcomeric genes, non-sarcomeric protein-coding modifier genes, and regulatory non-coding RNA genes). Transcriptome analysis is an informative approach for elucidating the nature of HCM, which allows one to evaluate the expression of all genes, evaluate the effect of mutations in a gene on its transcript level, and reveal the mechanisms involved in the regulation of gene expression. This review presents an analysis of published data on the spectra of genes whose differential expression has been detected in the myocardium during the development of HCM in humans and model animals. Special attention is paid to the genes of non-coding regulatory RNAs: miRNAs and long non-coding RNAs, which may be involved in the pathogenesis of the disease. We analyzed studies devoted to the investigation of miRNA levels in the blood of HCM patients to explore the available diagnostic and prognostic biomarkers of the disease. The totality of the reviewed data, despite their relative scarcity, indicates the effectiveness of transcriptome profiling in studying the molecular mechanisms of HCM pathogenesis.
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