Lia Puder, Sophie Roth, Philipp Krabusch, Susanna Wiegand, Robert Opitz, Martin Bald, Christa Flück, Esther Schulz, Egbert Voss, Lajos Markó, Peter Linz, Felix Berger, Dominik N Müller, Titus Kuehne, Michael J Litt, Roger D Cone, Peter Kühnen, Marcus Kelm
CONTEXT: Pro-opiomelanocortin (POMC) and the melanocortin-4 receptor (MC4R) play a pivotal role in the leptin-melanocortin pathway. Mutations in these genes lead to monogenic types of obesity due to severe hyperphagia. In addition to dietary-induced obesity, a cardiac phenotype without hypertrophy has been identified in MC4R knockout mice. OBJECTIVE: We aimed to characterize cardiac morphology and function as well as tissue Na + content in humans with mutations in POMC and MC4R genes...
May 24, 2021: Journal of Clinical Endocrinology and Metabolism