Related Experiment Video
Updated: Jun 11, 2025
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Identification and validation of autophagy‑related genes in hypertrophic cardiomyopathy
Rong-Bin Qiu1,2, Shi-Tao Zhao1,2, Zhi-Wei Li3
1Department of Cardiovascular Surgery, The First Affiliated Hospital, Nanchang University, Nanchang, Jiangxi 330006, P.R. China.
Insights
Autophagy-related genes (ARGs) show altered expression in hypertrophic cardiomyopathy (HCM). These genes, including EIF4EBP1 and MCL1, may serve as diagnostic biomarkers and therapeutic targets for HCM.
Area of Science:
- Cardiovascular Biology
- Molecular Genetics
- Cellular Biology
Background:
- Hypertrophic cardiomyopathy (HCM) is a genetic heart disorder causing ventricular hypertrophy and impaired function.
- Autophagy (AT) is crucial for cellular health, protecting against stress, and is implicated in myocardial hypertrophy.
- The exact mechanisms of AT regulation in cardiac hypertrophy are not fully understood.
Purpose of the Study:
- To investigate the role and mechanisms of autophagy-related genes (ARGs) in HCM.
- To identify potential diagnostic biomarkers and therapeutic targets for HCM.
- To predict potential drugs for HCM treatment.
Main Methods:
- Bioinformatics analysis of cardiac samples from the GEO database (HCM patients vs. healthy individuals).
- Screening for differentially expressed ARGs, functional enrichment analysis, and protein-protein interaction network construction.
- Experimental validation using an in vitro model of cardiac hypertrophy (H9c2 cells with angiotensin II stimulation).
Main Results:
- Significant alterations in ARG expression were observed in HCM.
- EIF4EBP1, MCL1, PIK3R1, CCND1, and PPARG were identified as potential biomarkers.
- Ten therapeutic components for HCM were predicted based on hub genes.
Conclusions:
- Altered expression of ARGs is a key feature of HCM.
- Identified ARGs show promise as diagnostic biomarkers for HCM.
- These ARGs represent potential therapeutic targets for novel HCM treatments.
Abstract:
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant cardiac disorder characterized by ventricular hypertrophy resulting from the disordered arrangement of myocardial cells, which leads to impaired cardiac function or death. Autophagy (AT) is a biochemical process through which lysosomes degrade and recycle damaged or discarded intracellular components to protect cells against external environmental conditions, such as hypoxia and oxidative stress. AT is closely related to HCM, and thus, serves an important role in myocardial hypertrophy. However, the precise mechanism underlying the regulation of AT in cardiac hypertrophy remains elusive. The present study aimed to examine the role and mechanisms of AT-related genes (ARGs) in HCM through bioinformatics analysis and experimental validation and to identify potential targeted drugs for HCM. In this study, cardiac samples were obtained from healthy individuals and patients with HCM from the GEO database, and screened for differentially expressed ARGs to further investigate their potential interactions and functional pathways. These genes were subjected to functional enrichment analysis to identify potential crosstalk and involved pathways. Based on a protein-protein interaction network, EIF4EBP1, MCL1, PIK3R1, CCND1 and PPARG were identified as potential biomarkers for the diagnosis and treatment of HCM. Furthermore, 10 components with therapeutic potential for HCM were predicted based on the aforementioned hub genes. The results of bioinformatics analysis were validated using H9c2 cells stimulated with angiotensin II, which represented an in vitro model of cardiac hypertrophy. Overall, the present study demonstrated that the expression levels of ARGs were substantially altered in HCM. Therefore, these genes may be used as diagnostic biomarkers and therapeutic targets for HCM.
