Researchers find 90 detox genes
Researchers at the Medical Center - University of Freiburg, together with collaboration partners, have discovered genetic factors that influence the detoxification and excretion of metabolic products from the human body / Patient study with around 1,600 p
The human organism metabolizes thousands of substances that are ingested with food or produced in the body itself. Researchers at the Medical Center - University of Freiburg, together with collaboration partners, have now identified 90 genes that influence metabolism and detoxification via the kidneys and urine and whose role in these processes was previously largely unknown. The study was published on January 20, 2020 in the renowned journal Nature Genetics. It provides new insights into the significance of metabolic predispositions, for example with regard to the development of kidney stones. It also offers explanations as to why even frequently prescribed medications are broken down differently.
"The results of the study will help to better assess the individual risk of metabolic diseases in the future. This would enable those affected to adapt their lifestyle in good time," says study leader Prof. Dr. Anna Köttgen, Director of the Institute of Genetic Epidemiology at the Medical Center - University of Freiburg. The study provides another important insight: "Our data underlines the fact that certain medications are broken down very differently by different people," says Köttgen. "In the future, the data could be taken into account in the personal dosage of a drug in order to optimize the effect and avoid side effects."
Harmonizing genetic and metabolic data
Metabolic products, also known as metabolites, are transported back and forth between the individual organs via the bloodstream and excreted via the intestines and kidneys with the help of the liver. The concentrations of many metabolites can be measured in a urine sample. They provide information about the body's metabolic and detoxification performance. The researchers led by first authors Dr. Pascal Schlosser, Dr. Yong Li and Dr. Peggy Sekula, all scientists and co-first authors at the Institute of Genetic Epidemiology at the Medical Center - University of Freiburg, therefore linked genetic data from 1,627 participants with chronic kidney disease with the urine concentrations of a total of 1,172 metabolites. The data was collected as part of the nationwide German Chronic Kidney Disease (GCKD) study, which is also being conducted at the Medical Center - University of Freiburg.
"With the help of genetic variation, we were able to identify which enzymes are responsible for people metabolizing, detoxifying and excreting substances differently," says Schlosser. "The enzymes are mainly active in the intestines, liver and kidneys and often influence how substances are broken down and excreted," says Sekula. "We were able to confirm the results in people without kidney disease, so the newly gained insights are also of interest to the general population," adds Yong Li.
Title of the study: Genetic Studies of Urinary Metabolites Illuminate Mechanisms of Detoxification and Excretion in Humans
DOI: 10.1038/s41588-019-0567-8
Link to the study: www.nature.com/articles/s41588-019-0567-8
Contact:
Prof. Dr. Anna Köttgen
Director
Institute of Genetic Epidemiology
Uniklinik Freiburg
Phone: 0761 270-78050
anna.koettgen@uniklinik-freiburg.de
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