Functional Analyses of Melanocortin-4 Receptor Mutations Identified from Patients with Binge Eating Disorder and Nonobese or Obese Subjects

Abstract

Patients harboring loss-of-function MC4R mutations do not always exhibit obesity. Novel MC4R variant identified from an obese patient cannot be assumed to be the cause of obesity without demonstrating a loss-of-function phenotype in vitro for the variant MC4R. Whether MC4R mutations are involved in the pathogenesis of binge eating disorder needs additional investigation.