Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: implication for MC4R agonist use.
Fiche publication
Date publication
avril 2023
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr PETIT Jean-Michel
Tous les auteurs :
Le Collen L, Delemer B, Poitou C, Vaxillaire M, Toussaint B, Dechaume A, Badreddine A, Boissel M, Derhourhi M, Clément K, Petit JM, Mau-Them FT, Bruel AL, Thauvin-Robinet C, Saveanu A, Cherifi BG, Le Beyec-Le Bihan J, Froguel P, Bonnefond A
Lien Pubmed
Résumé
Recessive deficiency for proopiomelanocortin (POMC) causes childhood-onset severe obesity. Cases can now benefit from the MC4R agonist setmelanotide. Furthermore, a phase 3 clinical trialis evaluating setmelanotide in heterozygotes for POMC. We performed a large-scale genetic analysis assessing the effect of heterozygous, pathogenic POMC variants on obesity.
Mots clés
Heterozygous, Hypocortisolism, POMC, Variant, obesity
Référence
Genet Med. 2023 04 20;:100857