Defective melanocortin 4 receptors in hyperphagia and morbid obesity

Article Abstract:

Two studies published in 2003 focus on a gene mutation that could cause 5% of all obesity cases, as well as possibly causing binge eating. The mutation is in the gene for the receptor for alpha melanocyte-stimulating hormone. This hormone usually causes people to stop eating when they are full. One study found that a group of obese people who binged on food all had the mutation, whereas only 14% of another group of obese people who did not binge had the mutation.

Editorial, Intermedin, Melanocyte stimulating hormone

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Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor

Article Abstract:

A study examined 300 subjects with severe, early-onset obesity in order to determine the prevalence of pathogenic mutations in the leptin-receptor gene (LEPR) in severely obese patients. Results indicated a 3% prevalence of pathogenic LEPR mutations in the subjects, while circulating levels of leptin were not disproportionately elevated, suggesting that serum leptin cannot be used as a marker for leptin-receptor deficiency.

Care and treatment, Analysis, Gene mutations, Gene mutation, Disease/Disorder overview

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Binge eating as a major phenotype of melanocortin 4 receptor gene mutations

Article Abstract:

People with a mutation in the gene for the melanocortin 4 receptor may engage in binge eating, which could explain why this gene mutation has been linked with obesity. In a study of 494 people, all 24 obese people with this mutation reported binge eating compared to 14% of obese people without the mutation and none of the 25 normal-weight men and women. This receptor is the receptor for a hormone that controls appetite.

Compulsive eating, Binge eating disorder

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