ea0081p360 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022
Virginia Alejandra
, Rondon Rodriguez
, Huisman Martin
, Welling Mila
, Akker Erica van den
, Rossum Elisabeth van
, Delhanty Patrick
, Visser Jenny
Introduction: Melanocortin-4 receptor (MC4R) is a G-protein-coupled receptor expressed in regions of the hypothalamus regulating appetite and energy expenditure. Extensive evidence from genetic and biological studies show that MC4R is a key player in the homeostatic regulation of body weight. MC4R loss of function (LoF) variants are the most common cause of monogenic obesity. We have identified 13 heterozygous MC4R variants in patients with obesity at our academic Obesity Cent...