Genetic obesity results from loss-of-function mutations, including those affecting the leptin-melanocortin system, which regulates body weight. Pro-opiomelanocortin (POMC)-derived neurohormones act as Show more
Genetic obesity results from loss-of-function mutations, including those affecting the leptin-melanocortin system, which regulates body weight. Pro-opiomelanocortin (POMC)-derived neurohormones act as ligands for melanocortin receptors (MCRs), regulating the leptin-melanocortin pathway through protein-protein interactions. Loss-of-function mutations in the genes encoding POMC, MC3R, and MC4R can lead to the dysregulation of energy expenditure and feeding balance, early-onset obesity, and developmental dysregulation. Recent studies have identified new genetic regulatory mechanisms and potential biomarker regions for the Show less