Melanocortin 3 receptor gene and melanocortin 4 receptor gene mutations: the Asian Perspective

摘要: Summary Melanocortin 4 receptor (MC4R) deficiency resulting from disruption of one or both MC4R alleles represents the commonest monogenic form human obesity to date. Human was reported affect and 5.8% severely obese French British populations respectively. However, studies elsewhere low incidence mutations in their populations. The significance Asian has not been adequately examined, though small Japan, China, Singapore few no pathogenic mutations, suggesting a prevalence this part world. There were also common described across populations, relative lack founder effect. role melanocortin 3 gene (MC3R) is as well accepted it gradually gaining ground. Two single nucleotide polymorphisms Thr6Lys Val81Ile within coding region associated with higher body fat leptin levels children, supported by impaired signaling activity vitro. reports missense enriched While MC3R are unlikely result an autosomal dominant given strong co-segregation family studies, so far provided evidence that can be genes which contributes increased adiposity, exert effect on phenotype.