Photo Credit: Martin Broz

The following is a summary of “Mitochondrial Metabolism Gene ECH1 Was Identified as a Novel Biomarker for Diabetic Nephropathy: Using Bioinformatics Analysis and Experimental Confirmation,” published in the April 2025 issue of Diabetes, Metabolic Syndrome and Obesity by Miao et al. 

Researchers conducted a retrospective study to identify novel biomarkers associated with mitochondrial metabolism that may have influenced the diagnosis and treatment of diabetic nephropathy (DN).  

They analyzed DN datasets from the Gene Expression Omnibus (GEO) database and mitochondrial metabolism-related genes (MRGs) from the MitoCarta3.0 database. Differentially expressed genes (DEGs) were identified using the “limma” R package, with functional analysis performed through Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG). Weighted gene coexpression network analysis (WGCNA) clustering identified important gene modules. Key genes were determined by intersecting DEGs, important gene modules, and MRGs. The ROC curves evaluated the sensitivity and specificity of diagnostic indicators for DN. 

The results showed that 343 DEGs were identified, with functional analysis highlighting metabolic biological processes. A total of 752 important module genes were determined. The PDK4, ECH1, and ETFB were selected as key genes. The GSE104954 dataset confirmed the high diagnostic value of PDK4 and ECH1 (AUC > 0.9). The q-PCR, flow cytometry, and Western blot analysis showed a significant decrease in key gene expression in high glucose-induced HK-2 cells and ECH1 was found to promote fatty acid oxidation while reducing cell apoptosis, oxidative stress, and inflammation.  

Investigators concluded that the identified biomarkers were related to mitochondrial metabolism in DN, providing new insights and directions for the diagnosis and treatment of DN. 

Source: dovepress.com/the-mitochondrial-metabolism-gene-ech1-was-identified-as-a-novel-bioma-peer-reviewed-fulltext-article-DMSO