Abstract
To acquire more information relative to the course of obesity in conditions of food restriction in subjects carrying mutations in the melanocortin signaling pathway, 710 obese children (mean age: 9.5±2.1 yr; mean z-score body mass index: 3.63±1.6) were genotyped for the proopiomelanocortin (POMC) R236G substitution, a variant which has been associated to early onset obesity, by restriction fragment length polymorphism (RFLP) analysis. Three children were heterozygotes for the R236G variant (0.4%). One of them had the metabolic syndrome. This variant was not found in 400 controls. The 3 probands followed a hypocaloric balanced diet and, after about 12 months, normalized their weight as well as fat mass and insulin resistance. The patient with the metabolic syndrome reversed this condition. These results show that a) the R236G substitution of POMC gene, although not a major cause of obesity among Italian obese children and adolescents, is associated with early onset obesity, and that b) inherited alterations of the melanocortin signaling pathway, independently of the degree of obesity, do not preclude the possibility to lose weight in mutated individuals following a hypocaloric diet. (J. Endocrinol. Invest. 29: 226–230, 2006)
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Santoro, N., Perrone, L., Cirillo, G. et al. Weight loss in obese children carrying the proopiomelanocortin R236G variant. J Endocrinol Invest 29, 226–230 (2006). https://doi.org/10.1007/BF03345544
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DOI: https://doi.org/10.1007/BF03345544