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ey0015.11-7 | New Developments in Monogenic Obesity | ESPEYB15

11.7 MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency

K Clément , H Biebermann , IS Farooqi , L Van der Ploeg , B Wolters , C Poitou , L Puder , F Fiedorek , K Gottesdiener , G Kleinau , N Heyder , P Scheerer , U Blume-Peytavi , I Jahnke , S Sharma , J Mokrosinski , S Wiegand , A Müller , K Weiß , K Mai , J Spranger , A Grüters , O Blankenstein , H Krude , P Kühnen

To read the full abstract: Nat Med 2018, May;24(5):551-555[Comments on 1.1, 1.5, 1.6 and 1.7] All four here presented articles have monogenic obesity as their theme. While patients with monogenic obesity are rare, these individuals bear a heavy disease burden. Furthermore, these...

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ey0017.11-2 | New Genetic Findings | ESPEYB17

11.2. Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

M Baron , J Maillet , M Huyvaert , A Dechaume , R Boutry , H Loiselle , E Durand , B Toussaint , E Vaillant , J Philippe , J Thomas , A Ghulam , S Franc , G Charpentier , JM Borys , C Levy-Marchal , M Tauber , R Scharfmann , J Weill , C Aubert , J Kerr-Conte , F Pattou , R Roussel , B Balkau , M Marre , M Boissel , M Derhourhi , S Gaget , M Canouil , P Froguel , A Bonnefond

To read the full abstract: Nature Medicine. 2019;25(11):17338. PMID 31700171.These authors sequenced the gene for melanocortin-2 receptor accessory protein (MRAP2 ) in 9418 blood DNA samples from several population studies. They detected 23 rare heterozygous variants, which were significantly associated with an increased risk of obesity (OR 3.8 in children and 2.9 in adults)....

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ESPE Yearbook of Paediatric Endocrinology

11.7 MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency

11.2. Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

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