Related Experiment Video

Updated: Jan 10, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

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Correlation of Differential Gene Expression and Clinical Variations in Hypertrophic Cardiomyopathy via Whole Genome

Prashantha Cn1, Ramachandra R1, Guruprasad Nm1

  • 1Department of Biotechnology, School of Applied Sciences, REVA University, Bangalore, Karnataka, India.

Biotechnology and Applied Biochemistry
|November 22, 2025
PubMed

Insights

This study identifies key genes like MYH7 and MYBPC3 involved in hypertrophic cardiomyopathy (HCM) through genetic analysis. Findings offer insights into HCM molecular mechanisms and potential biomarkers for this heart muscle disorder.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Genomics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a common heart condition characterized by heart muscle thickening.
  • Genetic mutations, lifestyle, and environmental factors contribute to HCM development.
  • The MYBPC3 gene is a known significant factor in HCM pathogenesis.

Purpose of the Study:

  • To computationally predict gene mutations and functional biomarkers for hypertrophic cardiomyopathy (HCM).
  • To identify differentially expressed genes and variant genes associated with HCM using genomic datasets.
  • To understand the molecular mechanisms underlying HCM through integrated analysis.

Main Methods:

  • Utilized RNA-sequencing and whole exome sequencing datasets from the Gene Expression Omnibus (GEO) database.
  • Analyzed 12 RNA-sequencing samples (4 controls, 8 HCM cases) and 12 exome sequencing datasets.
  • Performed computational analyses to identify differentially expressed and variant genes.

Main Results:

  • Identified top 20 differentially expressed genes in HCM, with MYH7 showing the highest expression.
  • MYH7 demonstrated a strong association with HCM, similar to MYBPC3.
  • Whole exome sequencing revealed variant genes including MYBPC3, MYH6, MYH7, and others previously linked to HCM.

Conclusions:

  • Integrated analysis reveals correlations between gene expression patterns and clinical variants in HCM.
  • Identified potential genetic contributors and functional biomarkers for hypertrophic cardiomyopathy.
  • Provides valuable insights into the molecular mechanisms driving HCM pathogenesis.

Keywords:
MYBPC3 and MYH7 genesRNA‐sequencingdifferential gene expressionhypertrophic cardiomyopathywhole exome sequencing

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