Open Access

Identification and validation of autophagy‑related genes in hypertrophic cardiomyopathy

  • Authors:
    • Rong-Bin Qiu
    • Shi-Tao Zhao
    • Zhi-Wei Li
    • Rui-Yuan Zeng
    • Zhi-Cong Qiu
    • Han-Zhi Peng
    • Zhi-Qiang Xu
    • Lian-Fen Zhou
    • Song-Qing Lai
    • Li Wan
  • View Affiliations

  • Published online on: September 25, 2024     https://doi.org/10.3892/etm.2024.12729
  • Article Number: 440
  • Copyright: © Qiu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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.

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December-2024
Volume 28 Issue 6

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Qiu R, Zhao S, Li Z, Zeng R, Qiu Z, Peng H, Xu Z, Zhou L, Lai S, Wan L, Wan L, et al: Identification and validation of autophagy‑related genes in hypertrophic cardiomyopathy. Exp Ther Med 28: 440, 2024.
APA
Qiu, R., Zhao, S., Li, Z., Zeng, R., Qiu, Z., Peng, H. ... Wan, L. (2024). Identification and validation of autophagy‑related genes in hypertrophic cardiomyopathy. Experimental and Therapeutic Medicine, 28, 440. https://doi.org/10.3892/etm.2024.12729
MLA
Qiu, R., Zhao, S., Li, Z., Zeng, R., Qiu, Z., Peng, H., Xu, Z., Zhou, L., Lai, S., Wan, L."Identification and validation of autophagy‑related genes in hypertrophic cardiomyopathy". Experimental and Therapeutic Medicine 28.6 (2024): 440.
Chicago
Qiu, R., Zhao, S., Li, Z., Zeng, R., Qiu, Z., Peng, H., Xu, Z., Zhou, L., Lai, S., Wan, L."Identification and validation of autophagy‑related genes in hypertrophic cardiomyopathy". Experimental and Therapeutic Medicine 28, no. 6 (2024): 440. https://doi.org/10.3892/etm.2024.12729