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 , Pr THAUVIN-ROBINET Christel

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

https://www.ncbi.nlm.nih.gov/pubmed/37092539

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.