New Therapy Target Identified for Obesity Disorder

A team of researchers at Columbia University Medical Center including NYSCF – Robertson Investigator Dr. Dieter Egli have discovered that a specific enzyme deficiency in the brain is linked to most of the abnormalities in Prader-Willi syndrome, a rare genetic condition that causes extreme hunger and severe obesity beginning in childhood. The researchers used induced pluripotent stem cells, made from skin samples of patients with Prader-Willi, to create the neurons affected and identify the deficient enzyme. The enzyme, prohormone covertase, captures the link between the well known genetic mutation leading to Prader-Willi and the symptoms of the syndrome.

The discovery, published in the Journal of Clinical Investigation, provides insight into the molecular mechanisms underlying the syndrome and highlights a novel target for drug therapy. This research has large implications not only on exciting new treatment targets and approaches for Prader-Willi patients, but also on the treatment and management of obesity in general.

Read the press release from Columbia University Medical Center

Read the paper in the Journal of Clinical Investigation