ESPE Abstracts

Background: The leptin-melanocortin pathway is pivotal in appetite and energy homeostasis. Pathogenic variants in genes involved in this pathway lead to severe early-onset monogenic obesity (MO). The MC4R gene plays a central role in the leptin-melanocortin, and variants predominantly heterozygous in this gene, are the most common cause of MO. We identified a novel heterozygous variant c.802T>C p.Tyr268His in the MC4R gene in two unrelated patients with mor...

Background: Monogenic early onset obesity is mainly due to pathogenic mutations in a single gene involved in the leptin melanocortin signaling pathway. This pathway is essential for satiety and energy homeostasis. Adenylate cyclase 3 (ADCY3) is a transmembrane protein localized in the primary cilia of neurons and plays a vital role in converting ATP to cAMP, a secondary messenger that regulates various downstream signaling pathways that control carbohydrates a...