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 managment of obesity in general.