This dataset contains metabolite concentrations of patients with a CRB1-IRD and healthy controls. The functional data is described in Moekotte et al. 2024 "The Gut Metabolism is altered in patients with CRB1-associated inherited retinal degeneration."

See preprint on medRxiv!

R scripts (markdown + R image) Figure 1 (see "data_preprocessing.html") Figure 2 (see "stat_analysis.html") Figure 3 (see "stat_analysis.html") Figure 4 (see "stat_analysis.html")

In this study we measured 619 metabolites with the MxP® Quant 500 Kit in 30 patients with a CRB1-associated inherited retinal degeneration (CRB1-IRD) and 29 healthy controls. We fitted a linear regression model with adjustments for age and sex based on the concentration of metabolites in µM (µmol/L), or on the sums and ratios of metabolites, to determine differences between patients and controls. Over-representation of pathways among metabolites associated strongest to CRB1-IRDs (P < 0.05, n = 62) identified amino acid pathways (such as beta-alanine, histidine, and glycine/serine) and bile acid biosynthesis, driven by a decrease in deoxycholic acid derivatives produced by gut microbiota. Enrichment analysis of metabolic classes across the plasma metabolic profile further identified significant positive enrichment for lipid metabolites glycerophospholipids, cholesterol esters, and ceramides, and significant depletion for bile acid metabolites. Further investigation of the sums and ratios (i.e., metabolism indicators) ascertained a significant decrease in intestinal microbial-dependent secondary bile acid classes. These lipid metabolic alterations and decrease in microbiota-related secondary bile acid concentrations indicate significant alterations in gut metabolism in patients with a CRB1-IRD.