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急性心肌梗死患者线粒体自噬相关基因的鉴定

Identification of mitophagy-related genes in patients with acute myocardial infarction.

作者信息

Li Ju-Ying, Chen Hong-Kui, Huang Yi-Hao, Zhi Yu-Peng, Li Yue-E, Lin Kai-Yang, Chen Chun, Guo Yan-Song

机构信息

The First People's Hospital of Yibin, Yibin, Sichuan Province, 644000, China.

Shenli Clincal Medical College of Fujian Medical University, Fuzhou, Fujian Province, 350000, China.

出版信息

Hereditas. 2025 Apr 26;162(1):70. doi: 10.1186/s41065-025-00424-5.

DOI:10.1186/s41065-025-00424-5
PMID:40287718
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12034215/
Abstract

Mitophagy is involved in acute myocardial infarction (AMI) process. However, the role of mitophagy-related genes (MRGs) in the AMI process is not well illustrated. We identified MRGs involved in AMI by bioinformatics analysis. The external datasets were employed for the validation of the MRGs, alongside the execution of cellular and animal experiments. Forty-five MRGs were detected, and machine learning identified the top four hub genes, namely ALDH2, ACSL1, IL1B, and GABARAPL1. Additionally, an external validation set was used to screen for three diagnostic markers (ACSL1, IL1B, and GABARAPL1) among these hub genes. Immune infiltration analysis revealed changes in the immune microenvironment among patients with AMI. Finally, the significant upregulation of ACSL1, IL1B, and GABARAPL1 in both cellular and animal models was confirmed. The occurrence of mitophagy was observed in the cell model through transmission electron microscopy (TEM). Our study demonstrated that ACSL1, IL1B, and GABARAPL1 possess potential biomarkers for AMI.

摘要

线粒体自噬参与急性心肌梗死（AMI）过程。然而，线粒体自噬相关基因（MRGs）在AMI过程中的作用尚未得到充分阐明。我们通过生物信息学分析确定了参与AMI的MRGs。利用外部数据集对MRGs进行验证，并同时开展细胞和动物实验。检测到45个MRGs，机器学习确定了前四个核心基因，即醛脱氢酶2（ALDH2）、长链脂酰辅酶A合成酶1（ACSL1）、白细胞介素1β（IL1B）和γ-氨基丁酸受体相关蛋白样1（GABARAPL1）。此外，使用外部验证集在这些核心基因中筛选出三个诊断标志物（ACSL1、IL1B和GABARAPL1）。免疫浸润分析揭示了AMI患者免疫微环境的变化。最后，证实了ACSL1、IL1B和GABARAPL1在细胞和动物模型中均显著上调。通过透射电子显微镜（TEM）在细胞模型中观察到了线粒体自噬的发生。我们的研究表明，ACSL1、IL1B和GABARAPL1具有作为AMI潜在生物标志物的特性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/d2c995af11c1/41065_2025_424_Fig8_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/84ed2604c7e4/41065_2025_424_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/c7ece763ae2f/41065_2025_424_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/057c36d02a42/41065_2025_424_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/9d493af37e2a/41065_2025_424_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/226923a716f0/41065_2025_424_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/177a7fbbd78a/41065_2025_424_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/6564ecb0578f/41065_2025_424_Fig7_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/d2c995af11c1/41065_2025_424_Fig8_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/84ed2604c7e4/41065_2025_424_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/c7ece763ae2f/41065_2025_424_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/057c36d02a42/41065_2025_424_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/9d493af37e2a/41065_2025_424_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/226923a716f0/41065_2025_424_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/177a7fbbd78a/41065_2025_424_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/6564ecb0578f/41065_2025_424_Fig7_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2189/12034215/d2c995af11c1/41065_2025_424_Fig8_HTML.jpg

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