Article
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Nature medicine - 1 Nov 2019
Baron Morgane, Maillet Julie, Huyvaert Marlène, Dechaume Aurélie, Boutry Raphaël, Loiselle Hélène, Durand Emmanuelle, Toussaint Bénédicte, Vaillant Emmanuel, Philippe Julien, Thomas Jérémy, Ghulam Amjad, Franc Sylvia, Charpentier Guillaume, Borys Jean-Michel, Lévy-Marchal Claire, Tauber Maïthé, Scharfmann Raphaël, Weill Jacques, Aubert Cécile, Kerr-Conte Julie, Pattou François, Roussel Ronan, Balkau Beverley, Marre Michel, Boissel Mathilde, Derhourhi Mehdi, Gaget Stefan, Canouil Mickaël, Froguel Philippe, Bonnefond Amélie
Abstract excerpt
The G-protein-coupled receptor accessory protein MRAP2 is implicated in energy control in rodents, notably via the melanocortin-4 receptor1. Although some MRAP2 mutations have been described in people with obesity1-3, their functional consequences on adiposity remain elusive. Using large-scale sequencing of MRAP2 in 9,418 people, we identified 23 rare heterozygous variants associated with increased obesity risk...
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