Leptin and leptin receptor-related monogenic obesity

B Dubern, K Clement - Biochimie, 2012 - Elsevier
The studies based on candidate genes and encoded proteins known to cause severe
obesity in rodents, have shown that these genes also contribute to human early-onset
obesity especially for those involved in the leptin pathway: the leptin (LEP) and leptin
receptor (LEPR) genes. Since 1997, less than 20 individuals carrying a LEP gene mutation
have been identified. Patients are mostly characterized by severe early-onset obesity with
severe hyperphagia and associated phenotype such hypogonadotrophic hypogonadism …