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Updated: Sep 29, 2025

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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Identification of Potential Diagnostic Biomarkers and Biological Pathways in Hypertrophic Cardiomyopathy Based on

Tingyan Yu1, Zhaoxu Huang1, Zhaoxia Pu1

  • 1Department of Cardiology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China.

Genes
|March 25, 2022
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) is a genetic heart condition. This study identified LYVE1, MAFB, and MT1M as potential biomarkers for HCM, suggesting roles for oxidative stress and inflammation in its development.

Area of Science:

  • Genetics
  • Cardiology
  • Bioinformatics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a genetic disorder and a leading cause of sudden cardiac death in young individuals.
  • Accurate diagnosis and effective treatment strategies for HCM remain challenging due to its genetic heterogeneity.

Purpose of the Study:

  • To identify potential diagnostic biomarkers for HCM using bioinformatics analysis.
  • To elucidate biological pathways associated with HCM pathogenesis.

Main Methods:

  • Analysis of the GSE36961 dataset to identify differentially expressed genes (DEGs).
  • Weighted gene coexpression network analysis (WGCNA) to identify key gene modules.
  • Least absolute shrinkage and selection operator (LASSO) modeling to pinpoint key genes.
  • Validation of gene expression in the GSE130036 dataset.
  • Gene Set Enrichment Analysis (GSEA) to identify relevant biological pathways.

Main Results:

  • 893 DEGs were identified, with the turquoise module showing a strong negative correlation with HCM.
  • LYVE1, MAFB, and MT1M were identified as key genes associated with HCM.
  • GSEA indicated that oxidative phosphorylation, TNFα-NFκB, IFNγ response, and inflammatory response pathways are potentially linked to HCM.

Conclusions:

  • LYVE1, MAFB, and MT1M are proposed as potential diagnostic biomarkers for HCM.
  • Oxidative stress, immune response, and inflammatory response are likely involved in the pathogenesis of HCM.
  • These findings may aid in the diagnosis and treatment of HCM.

Keywords:
GSEALASSOWGCNAbiomarkershypertrophic cardiomyopathy

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