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Dadun > Depósito Académico > Facultad de Farmacia > Departamento de Ciencias de la Alimentación, Fisiología y Toxicología > DA - Farmacia - CAFT - Artículos de revista >

A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population
Authors: Marti, A. (Amelia)
Corbalan, M. (M.S.)
Forga, L. (Luis)
Martinez, J.A. (José Alfredo)
Hinney, A. (Anke)
Hebebrand, J. (Joahnnes)
Keywords: Melanocortin 4 receptor
Issue Date: 2003
Publisher: Nature Publishing Group
Publisher version:
ISSN: 0307-0565
Citation: Marti A, Corbalan MS, Forga L, Martinez JA, Hinney A, Hebebrand J. A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population. Int J Obes Relat Metab Disord 2003 Mar;27(3):385-388.
BACKGROUND: In recent years, several groups have reported dominant inheritance of obesity conferred by missense, nonsense and frameshift mutations in the melanocortin 4 receptor gene (MC4R). Hence, MC4R is involved in the most common monogenic form of human obesity described so far. OBJECTIVES: In this context, we screened a Spanish population, composed of obese subjects and normal weight controls, for mutations in the MC4-R by single-strand conformational polymorphism (SSCP). SUBJECTS AND METHODS: Overall 313 individuals, 159 obese subjects (body mass index: BMI: 37.6 kg/m2, 95% CI: 36.7–38.5 kg/m2) and 154 normal weight control subjects (BMI: 22.3 kg/m2, 95% CI: 22.0–22.6 kg/m2) were screened for MC4-R mutations. RESULTS: We detected a novel nonsense mutation at codon 16 of the MC4-R in an obese female (BMI: 30.0 kg/m2) and a previously described missense mutation (Val-253-Ile) located within the sixth trans-membrane domain of the MC4-R in a normal weight individual (BMI: 19.0 kg/m2). The polymorphism Val-103-Ile was detected in one obese individual, while four subjects (two cases and two controls) with the polymorphism Ile-251-Leu were found. CONCLUSIONS: We have identified a novel nonsense mutation (Trp-16-Stop) that, based on previously described frameshift and nonsense mutations, most likely results in dominantly inherited obesity. Within this Spanish population, the frequency of the Ile-251-Leu polymorphism of the MC4R was similar in obese and control subjects (about 1.3%), while the polymorphism Val-103-Ile was only detected in an obese individual (0.6%).
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