Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist
نویسندگان
چکیده
منابع مشابه
Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency
OBJECTIVE Pro-opiomelanocortin (POMC)-derived peptides act on neurons expressing the Melanocortin 4 receptor (MC4R) to reduce body weight. Setmelanotide is a highly potent MC4R agonist that leads to weight loss in diet-induced obese animals and in obese individuals with complete POMC deficiency. While POMC deficiency is very rare, 1-5% of severely obese individuals harbor heterozygous mutations...
متن کاملA Small Molecule Agonist THIQ as a Novel Pharmacoperone for Intracellularly Retained Melanocortin-4 Receptor Mutants
Although mutations in the melanocortin-4 receptor (MC4R) gene cause severe early-onset obesity, we still do not have effective approaches to correct the defects of these mutations. Several antagonists have been identified as pharmacoperones of the MC4R whereas no agonist of the MC4R has been reported. In the present study, we investigated the effect of a small molecule agonist of the MC4R, THIQ...
متن کاملDominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.
Over 20 severely obese subjects in 11 independent kindreds have been reported to have pathogenic heterozygous mutations in the gene encoding the melanocortin 4 receptor (MC4R), making this the most common known monogenic cause of human obesity. To date, the detailed clinical phenotype of this dominantly inherited disorder has not been defined, and no homozygous subjects have been described. We ...
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despite a quite short early history, computational drug design and discovery methods can now be efficient in reducing costs and speeding up drug developing procedure. melanocortin-4 receptor (mc4r) is a g protein-coupled receptor implicated in the regulation of body weight. despite its clinical reputation, there is a lack of in-depth knowledge about structure and behavior of mc4r in lipid bilay...
متن کاملGene expression in hypothalamus, liver, and adipose tissues and food intake response to melanocortin-4 receptor agonist in pigs expressing melanocortin-4 receptor mutations.
Transcriptional profiling was used to identify genes and pathways that responded to intracerebroventricular injection of melanocortin-4 receptor (MC4R) agonist [Nle(4), d-Phe(7)]-α-melanocyte stimulating hormone (NDP-MSH) in pigs homozygous for the missense mutation in the MC4R, D298 allele (n = 12), N298 allele (n = 12), or heterozygous (n = 12). Food intake (FI) was measured at 12 and 24 h af...
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ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 2016
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejmoa1512693