Searchable abstracts of presentations at key conferences in endocrinology

ea0014oc10.4 | Obesity & metabolism | ECE2007

Restoration of signalling capabilities in total loss of function MC4R mutations

Brumm Harald , Bolze Florian , Friedel Susann , Hinney Anke , Klingenspor Martin , Hebebrand Johannes , Grüters Annette , Biebermann Heike

Objectives: The melanocortin 4 receptor (MC4R) belonging to the large superfamily of G-protein coupled receptors plays a crucial role in hypothalamic weight regulation. In approximately 3–5% of investigated obese patients inactivating MC4R mutations are the underlying molecular cause for early onset obesity. Functional characterisation revealed for specific partial loss of function MC4R mutations that restoration of receptor function is possible by usage of highly potent ...