ea0063gp132 | Obesity | ECE2019
Bihan Johanne Le Beyec-Le
, Poitou-Bernert Christine
, Karsenty Alexandra
, Pelloux Veronique
, Lacorte Jean Marc
, Tounian Patrick
, Oppert Jean Michel
, Clement Karine
, Dubern Beatrice
The leptin/melanocortin pathway plays a critical role in hypothalamic control of food intake. Variants in the genes involved in this pathway, such as leptin (LEP), its receptor (LEPR), proopiomelanocortin (POMC) or proconvertase 1 (PCSK1) are associated with early-onset severe obesity and endocrine abnormalities especially in case of homozygosity. Heterozygous variants in the melanocortin-4 receptor (MC4R) gene are associated with an increased risk of severe obesity. The aim i...