Melanocortin-4 receptor

Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity

B. Paolini, Maltese, P. E., Del Ciondolo, I., Tavian, D., Missaglia, S., Ciuoli, C., Zuntini, M., Cecchin, S., Bertelli, M., Pompucci, G., Paolini, B., Maltese, P. E., Del Ciondolo, I., Tavian, D., Missaglia, S., Ciuoli, C., Zuntini, M., Cecchin, S., Bertelli, M., and Pompucci, G., Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity, vol. 15, p. -, 2016.

Obesity is a major public health concern; despite evidence of high heritability, the genetic causes of obesity remain unclear. In this study, we assessed the presence of mutations in three genes involved in the hypothalamic leptin-melanocortin regulation pathway (leptin, LEP; leptin receptor, LEPR; and melanocortin-4 receptor, MC4R), which is important for energy homeostasis in the body, in a group of patients with severe obesity.

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