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Identification and Validation of Mitophagy-Related Genes in Diabetic Retinopathy

Peng, W.; Zou, Y.

2024-09-14 bioinformatics
10.1101/2024.09.10.612286 bioRxiv
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BackgroundDiabetic 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. MethodsWe 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). ResultsWe identified 27 differentially expressed genes related to mitophagy by using R language, with 10 genes upregulated and 17 genes down regulated. 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. ConclusionWe 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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