By: Bin Xie, Zhao Chen, Jian Liu, Jimei Chen, Jian Zhuang, Huimin Guo, Jiyan Chen
Keywords: Network analysis; Hypertrophic cardiomyopathy; Protein-protein interaction; Transcription factor-gene interaction.
DOI : 10.36721/PJPS.2025.38.2.REG.13559.1
Abstract: Hypertrophic cardiomyopathy (HCM) is a genetic heart disorder that can lead to sudden cardiac death. Current treatment strategies, such as implantable cardioverter-defibrillators, exhibit limitations in impeding disease progression. Despite the identification of several pathogenic genes, the complex mechanisms underlying HCM remain unclear. This study aims to identify novel pathogenic genes and critical biomarkers for HCM using network-based bioinformatics analysis, with the potential to discover therapeutic targets for pharmaceutical interventions. Gene expression data from 119 HCM patients and 55 healthy donors were analyzed using differential gene expression (DEG) analysis, followed by gene ontology (GO), KEGG and Reactome pathway enrichment studies. A protein-protein interaction (PPI) network was constructed to identify hub genes and their interactions, with a focus on potential drug targets. We identified a key gene module, with TNNT1 emerging as a critical hub gene. TNNT1 was found to significantly influence cardiac development and contribute to HCM pathogenesis. Our findings suggest that TNNT1’s role in regulating cardiac contractility could provide a foundation for developing new therapeutic agents targeting this pathway. This study provides novel insights into the molecular mechanisms of HCM and identifies TNNT1 as a potential biomarker for early screening and a promising target for pharmaceutical therapies. The identification of TNNT1 offers opportunities for personalized medicine approaches, which could facilitate the development of drugs aimed at modulating its expression and mitigating disease progression in HCM patients.
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