Article
Mutational analysis of the pro-opiomelanocortin gene in French obese children led to the identification of a novel deleterious heterozygous mutation located in the alpha-melanocyte stimulating hormone domain.
Pediatric research - 1 Feb 2008
Dubern Beatrice, Lubrano-Berthelier Cecile, Mencarelli Monica, Ersoy Baran, Frelut Marie-Laure, Bouglé Dominique, Costes Bruno, Simon Chantal, Tounian Patrick, Vaisse Christian, Clement Karine
Abstract excerpt
The pro-opiomelanocotin (POMC) plays a key role in body weight regulation, where its derived peptides mediate leptin action via the hypothalamic melanocortin 4 receptor (MC4R). The pathogenic effects of POMC mutations have been challenged in obesity. Our aim was to assess the relevance of POMC mutations in a cohort of French obese and nonobese children. Direct sequencing of the POMC gene was performed in 322...
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