Article
Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients
Registro en:
FONSECA, Ana Carolina Proença da et al. Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients. Eating and Weight Disorders - Studies on Anorexia, Bulimia and Obesity, 10p, on line June 2020.
1124-4909
10.1007/s40519-020-00946-z
1590-1262
Autor
Fonseca, Ana Carolina Proença da
Abreu, Gabriella de Medeiros
Zembrzuski, Verônica Marques
Campos Junior, Mario
Carneiro, João Regis Ivar
Nogueira Neto, José Firmino
Magno, Fernanda Cristina C Mattos
Rosado, Eliane Lopes
Bozza, Patrícia Torres
Cabello, Giselda Maria Kalil de
Cabello, Pedro Hernán
Resumen
Monogenic forms of obesity are caused by single-gene variants which affect the energy homeostasis by increasing food intake and decreasing energy expenditure. Most of these variants result from disruption of the leptin-melanocortin signaling, which can cause severe early-onset obesity and hyperphagia. These mutation have been identified in genes encoding essential proteins to this pathway, including leptin (LEP), melanocortin 2 receptor accessory proteins 2 (MRAP2) and proopiomelanocortin (POMC). We aimed to investigate the prevalence of LEP, MRAP2 and POMC rare variants in severely obese adults, who developed obesity during childhood. To the best of our knowledge, this is the first study screening rare variants of these genes in patients from Brazil. 2022-01-01