OBJECTIVE: To investigate whether pathogenic melanocortin-4 receptor (MC4R) mutations are a common cause of obesity in Belgium. DESIGN: Cross-sectional mutation analysis. SUBJECTS: In total, 95 morbidly obese adults (mean age 44.02+/-11.35 years; mean BMI 47.87+/-4.17 kg/m2 and 123 obese children and adolescents were screened for mutations in MC4R (mean age 16.56+/-2.58 years; BMI>95th percentile for age and sex; mean % overweight 170.86 +/- 23.63). MEASUREMENTS: A series of anthropometric (e.g. weight, height, waist, hip), biochemical and clinical measurements were performed on all subjects. The entire coding region of MC4R was screened using DHPLC, a highly sensitive and specific method for mutation analysis. Direct sequencing was performed when the chromatogram deviated from the WT pattern. RESULTS: Mutation screening of a cohort of Belgian obese adults and children did not detect any pathogenic mutations as only the previously described polymorphisms Val103Ile, Thr112Met and Ile251Leu were detected. CONCLUSION: Pathogenic mutations in MC4R are not a common cause of obesity in a Belgian population of obese adults, children and adolescents.
OBJECTIVE: To investigate whether pathogenic melanocortin-4 receptor (MC4R) mutations are a common cause of obesity in Belgium. DESIGN: Cross-sectional mutation analysis. SUBJECTS: In total, 95 morbidly obese adults (mean age 44.02+/-11.35 years; mean BMI 47.87+/-4.17 kg/m2 and 123 obesechildren and adolescents were screened for mutations in MC4R (mean age 16.56+/-2.58 years; BMI>95th percentile for age and sex; mean % overweight 170.86 +/- 23.63). MEASUREMENTS: A series of anthropometric (e.g. weight, height, waist, hip), biochemical and clinical measurements were performed on all subjects. The entire coding region of MC4R was screened using DHPLC, a highly sensitive and specific method for mutation analysis. Direct sequencing was performed when the chromatogram deviated from the WT pattern. RESULTS: Mutation screening of a cohort of Belgian obese adults and children did not detect any pathogenic mutations as only the previously described polymorphisms Val103Ile, Thr112Met and Ile251Leu were detected. CONCLUSION: Pathogenic mutations in MC4R are not a common cause of obesity in a Belgian population of obese adults, children and adolescents.
Authors: Sigri Beckers; Doreen Zegers; Fenna de Freitas; Armand V Peeters; Stijn L Verhulst; Guy Massa; Luc F Van Gaal; Jean-Pierre Timmermans; Kristine N Desager; Wim Van Hul Journal: Obes Facts Date: 2010-10-15 Impact factor: 3.942
Authors: Shelley A Cole; Nancy F Butte; V Saroja Voruganti; Guowen Cai; Karin Haack; Jack W Kent; John Blangero; Anthony G Comuzzie; John D McPherson; Richard A Gibbs Journal: Am J Clin Nutr Date: 2009-11-04 Impact factor: 7.045
Authors: Jasmijn K Van Camp; Doreen Zegers; Stijn L Verhulst; Kim Van Hoorenbeeck; Guy Massa; An Verrijken; Kristine N Desager; Luc F Van Gaal; Wim Van Hul; Sigri Beckers Journal: Endocrine Date: 2012-10-27 Impact factor: 3.633