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| Using genome-wide analysis, the researchers identified 1,299 genetic alterations that impact on metabolites in blood plasma and urine. Shown here are the 282 gene locations where enzymes and transporter proteins that influence metabolism are located. Full Size Image Image Credit: Anna Köttgen/Universität Freiburg |
Researchers at the Faculty of Medicine at the University of Freiburg have gained significant new insights into metabolic processes in the kidney. The scientists from the Institute of Genetic Epidemiology at the Medical Center - University of Freiburg measured tiny molecules, so-called metabolites, which occur in blood and urine and reflect our metabolism, in samples from more than 5,000 study participants. They compared these with the genome of the test persons and were able to identify 1,299 genetic changes that are associated with metabolites and contribute to their production, degradation or transport. The findings provide a better understanding of processes throughout the body and particularly in the kidney, which produces urine from blood plasma. These discoveries, which appeared June 5, 2023, in the journal Nature Genetics, could lead to a better understanding of diseases and new approaches to their treatment. For example, a new class of therapies for treating diabetes, called SGLT2 inhibitors, work by inhibiting a metabolite transporter in the kidney.



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