“A Missing Piece of the Puzzle”– Researchers Investigate New Cause of Severe Obesity

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Given the discovery, the scientists recommend reassessing the techniques utilized to identify clients with genetic weight problems.

Leipzig scientists take a look at a brand-new reason for serious weight problems.

Obesity and obesity-related health problems are significant factors to worldwide death, however the source are still not popular. Several aspects add to the advancement and development of the illness, consisting of genes. In most cases, serious weight problems arises from a mix of unhealthy practices and a hereditary predisposition called polygenic condition, in which numerous genes are included.

Researchers at Leipzig University Hospital and the Helmholtz Institute for Metabolic, Obesity, and Vascular Research (HI-MAG) at Helmholtz Munich likewise wish to determine the uncommon cases of monogenic weight problems. In these clients, problems in a single gene are the reason for the illness. Those impacted frequently reveal a reduced experience of satiety in early youth and struggle with a consistent sensation of appetite.

While studying tissue samples from a woman with serious weight problems, the Leipzig scientists discovered that a particular gene, the agouti-signaling protein (ASIP) gene, was produced at high levels in cells where it is not generally present (e.g. in fat cells, leukocyte and neuronal cells).

Project head Antje Körner, teacher of pediatric research study and pediatrician stated, “This discovery is a kind of missing piece of the puzzle in research on monogenic human obesity. It is also evidence for the importance of key molecular regulatory mechanisms of energy balance and body weight via melanocortin 4 receptor neurons in humans and provides us with a unique opportunity to study these mechanisms.”

The kind of anomaly discovered in the present research study leaves basic hereditary screening algorithms, which implies that it stays unnoticed in lots of afflicted clients. Thanks to the targeted screening of the Leipzig Childhood Obesity friend, Professor Körner’s group has actually recognized 4 extra clients with the very same anomaly.

“Given this discovery, I believe we need to rethink the strategies we use to identify patients with monogenic obesity. The ultimate goal of our research is to transfer the findings from genetic studies to future personalized treatment options for obesity,” stated Professor Matthias Bl üher, director of HI-MAG and representative of the CRC 1052 “Obesity Mechanisms” in the Faculty of Medicine.

Reference: “Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity” by Elena Kempf, Kathrin Landgraf, Robert Stein, Martha Hanschkow, Anja Hilbert, Rami Abou Jamra, Paula Boczki, Gunda Herberth, Andreas Kühnapfel, Yu-Hua Tseng, Claudia St äubert, Torsten Sch öneberg, Peter Kühnen, N. William Rayner, Eleftheria Zeggini, Wieland Kiess, Matthias Bl üher and Antje Körner, 19 December 2022, Nature Metabolism
DOI: 10.1038/ s42255-022-00703 -9

The research study was moneyed by the German Research Foundation and the German Diabetes Society.