hrp0084p2-338 | Fat | ESPE2015

A Novel Melanocortin-4-Receptor Gene Mutation Associated with Early Onset Severe Obesity

Toumba Meropi , Shammas Christos , Neocleous Vassos , Phelan Marie , Skordis Nicos , Phylactou Leonidas , Mantzoros Christos

Background: The melanocortin-4-receptor gene (MC4R) is a key regulator for appetite and satiety. MC4R mutations account for 6–8% of severe obesity in children with variable expression and penetrance.Case presentation: A 3-year-old girl is presented with severe early onset and progressive obesity. She was born full-term with appropriate of gestational age weight by non-consanguineous parents. She had normal psychomotor milestones an...

hrp0095p1-270 | Fat, Metabolism and Obesity | ESPE2022

Homology modelling analysis provides insight into ADCY3, a candidate obesity gene

Toumba Meropi , Fanis Pavlos , Neocleous Vassos , Vlachakis Dimitrios , Phylactou Leonidas , Skordis Nicos , Mantzoros Christos , Pantelidou Maria

Background: In an effort to better understand the molecular basis of obesity, studies focus on genetic loci mapping to the leptin–melanocortin pathway, one of the key mechanisms for controlling food intake and body weight. Adenylate cyclase 3 (ADCY3) is a key genetic candidate as it seems to have an essential role at primary neuronal cilia in regulating body weight. We have previously reported the novel probably pathogenic ADCY3</em...