hrp0095p1-86 | Fat, Metabolism and Obesity | ESPE2022

Detailed cardiac phenotyping of obese patients with mutations in the genes POMC and MC4R

Ruck Lisa , Usadel Lea , Krabusch Philipp , Wiegand Susanna , Flück Christa , Kühne Titus , Cone Roger , Litt Michael , Helm Marcus , Kühnen Peter

Pro-opiomelanocortin (POMC) and the melanocortin-4-receptor (MC4R) are playing a key role within the leptin-melanocortin-pathway and thereby for satiety regulation. Mutations within these genes are leading to hyperphagia and early-onset obesity. However, observations of cardiac abnormalities including left ventricular dilatation and reduced contractibility in the MC4R knockout mouse model and reports about a reduced blood pressure in human MC4R variant carriers, led us to inve...