The global rise in the prevalence of obesity and associated co-morbidities such as type 2
diabetes, cardiovascular disease, and cancer represents a major public health concern. The …

The initial discovery that ob/ob mice become obese because of a recessive mutation of the
leptin gene has been crucial to discover the melanocortin pathway to control appetite. In the …

INTRODUCTION Loss-of-function mutations in one gene copy can lead to reduced amounts
of protein and, consequently, human disease, a condition termed haploinsufficiency. It is …

Genome-wide association studies (GWAS) have identified> 250 loci for body mass index
(BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters …

Abstract Objective Pro-opiomelanocortin (POMC)-derived peptides act on neurons
expressing the Melanocortin 4 receptor (MC4R) to reduce body weight. Setmelanotide is a …

Obesity results from a synergistic relationship between genes and the environment. The
phenotypic expression of genetic factors involved in obesity is variable, allowing to …

Eating disorders (EDs) are serious psychiatric conditions influenced by biological,
psychological, and sociocultural factors. A better understanding of the genetics of these …

As we enter the 21st century, a new era of nutrition in the prevention and treatment of
disease emerges. Clinical nutrition involves the integration of diet, genetics, environment …

Abstract The melanocortin-4 receptor (MC4R) was cloned in 1993 by degenerate PCR;
however, its function was unknown. Subsequent studies suggest that the MC4R might be …

Most monogenic cases of obesity in humans have been linked to mutations in genes
encoding members of the leptin–melanocortin pathway. Specifically, mutations in MC4R, the …