Identification and Validation of Mitophagy-Related Genes in Diabetic Retinopathy

bioRxiv - Bioinformatics Pub Date : 2024-09-14 DOI:10.1101/2024.09.10.612286

Wenxuan Peng, Yulin Zou

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Abstract

Background: Diabetic retinopathy is one of the common chronic complications of diabetes, characterized by retinal microvascular and neurodegenerative impairment,and it is the primary cause of vision impairment and blindness in adults. Many studies have demonstrated that mitophagy plays a significant role in the pathological mechanism of DR. However, its mechanism is not yet fully clear and requires further research. Methods: We obtained relevant datasets of diabetic retinopathy from the GEO database and used R language to screen for differentially expressed genes. We intersected these genes with mitophagy-related genes and identified differentially expressed mitophagy-related genes. We performed GO and KEGG analysis on the differentially expressed mitophagy-related genes, followed by PPI network analysis. Using Cytoscape software, we selected mitophagy hub genes. Finally, we further validated the expression of the mitophagy hub genes in an in vitro cell culture high-glucose model using quantitative real-time polymerase chain reaction (qRT-PCR). Results: We identified 27 differentially expressed genes related to mitophagy by using R language, with 10 genes upregulated and 17 genes downregulated. We performed GO and KEGG enrichment analysis using R software to further study the potential biological functions of differentially expressed genes. Through PPI network analysis and Cytoscape software, we selected 10 hub genes associated with mitophagy. Finally, through qRT-PCR validation of these 10 hub genes, we found that the mRNA expression differences of MFN1, BNIP3L, GABARAPL1, and PINK1 genes were consistent with our bioinformatics analysis results. Conclusion: We consider that MFN1, BNIP3L, GABARAPL1, and PINK1 may serve as potential biomarkers for diabetic retinopathy.The upregulation and downregulation of these genes provide new insights for further exploration of the role of mitophagy in the pathological mechanism of diabetic retinopathy.These genes can serve as new potential therapeutic targets for the treatment of diabetic retinopathy.

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糖尿病视网膜病变中与丝裂噬相关基因的鉴定与验证

背景：糖尿病视网膜病变是糖尿病常见的慢性并发症之一，以视网膜微血管和神经退行性损伤为特征，是导致成人视力损伤和失明的主要原因。许多研究表明，有丝分裂在 DR 的病理机制中起着重要作用。然而，其机制尚不完全清楚，需要进一步研究：我们从 GEO 数据库中获取了糖尿病视网膜病变的相关数据集，并使用 R 语言筛选差异表达基因。我们将这些基因与有丝分裂相关基因交叉，并确定了有丝分裂相关的差异表达基因。我们对有丝分裂相关的差异表达基因进行了 GO 和 KEGG 分析，然后进行了 PPI 网络分析。利用 Cytoscape 软件，我们筛选出了有丝分裂中心基因。最后，我们利用实时定量聚合酶链反应（qRT-PCR）在体外细胞培养高糖模型中进一步验证了有丝分裂中心基因的表达：结果：我们使用 R 语言识别了 27 个与有丝分裂相关的差异表达基因，其中 10 个基因上调，17 个基因下调。我们利用 R 软件进行了 GO 和 KEGG 富集分析，进一步研究了差异表达基因的潜在生物学功能。通过PPI网络分析和Cytoscape软件，我们筛选出了10个与有丝分裂相关的枢纽基因。最后，通过对这10个中心基因的qRT-PCR验证，我们发现MFN1、BNIP3L、GABARAPL1和PINK1基因的mRNA表达差异与我们的生物信息学分析结果一致：我们认为，MFN1、BNIP3L、GABARAPL1 和 PINK1 可作为糖尿病视网膜病变的潜在生物标志物，这些基因的上调和下调为进一步探讨有丝分裂在糖尿病视网膜病变病理机制中的作用提供了新的见解，这些基因可作为治疗糖尿病视网膜病变的潜在新靶点。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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bioRxiv - Bioinformatics

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