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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
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[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.
Molekuliarnaia Biologiia
|December 4, 2020
Summary
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.
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