Journal: Renal Failure
Article Title: Serum metabolic profiling analysis of Gitelman syndrome using untargeted metabolomics
doi: 10.1080/0886022X.2026.2662094
Figure Lengend Snippet: Metabolomic analysis reveals aberrant lipid metabolism in homozygous GS patients. (A) Comparison of serum total cholesterol (TC) levels between the WT and HOM groups. (B-D) Quantification of total cholesterol (B), free cholesterol (C), and cholesteryl ester (D) levels in lysates of 293 T cells expressing WT or HOM mutant SLC12A3 . (E-G) Quantification of total cholesterol (E), free cholesterol (F), and cholesteryl ester (G) levels in supernatant of 293 T cells expressing WT or HOM mutant SLC12A3 . (H) Heatmap illustrating the differential metabolites in serum samples from the WT and HOM GS groups. Each column represents an independent biological replicate, and each row corresponds to a specific metabolite. Red and blue indicate upregulated and downregulated relative abundances of the metabolites, respectively. (I) KEGG pathway enrichment analysis was performed on the differential metabolites. The analysis revealed that glycerophospholipid metabolism was the most significantly affected pathway. In the bubble plot, the significance of pathway enrichment is indicated by the y-axis position and color scale, while the pathway impact factor is represented by the x-axis position and the size of the bubble. (J, K) ROC curve (J) and statistical analysis (K) for hexanoylglycine. (L, M) ROC curve (L) and statistical analysis (M) for PE(P-18:0/19:1). * p < 0.05, ** p < 0.01, *** p < 0.001, **** p < 0.0001.
Article Snippet: The 293 T cell line with the SLC12A3 c.1262G > T (p.C421F) point mutation was custom-generated by UBIGENE (Contract ID: UBISUM250617ZJ1).
Techniques: Metabolomic, Comparison, Expressing, Mutagenesis
