ESPE Abstracts

Background: The MC4R pathway is the principal regulator of mammalian energy balance through its modulation of energy intake and energy expenditure. Variants in genes associated with the MC4R pathway can result in rare genetic diseases of obesity. Clinical data in patients with genetic defects in the MC4R pathway indicate that setmelanotide, an MC4R agonist, can effectively reduce weight and hunger in scientifically rationalized obese subpopulations in which MC...

Background: The melanocortin-4 receptor (MC4R) pathway is critical for the regulation of energy balance. Variants in a number of genes within this pathway have well-established associations with severe obesity. However, the overall frequency of rare variants in these genes has not been assessed systematically in a clinically relevant population, and it is unknown whether variant frequency differs depending on the age of ascertainment. Genetic testing can impro...