Human Melanocortin 4 Receptor Deficiency

I. Sadaf Farooqi and Stephen O'Rahilly

in Genetics of Obesity Syndromes

Published on behalf of Oxford University Press

Published in print July 2009 | ISBN: 9780195300161
Published online October 2012 | e-ISBN: 9780199975198 | DOI:

Series: Oxford Monographs on Medical Genetics

Human Melanocortin 4 Receptor Deficiency

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  • Clinical Genetics
  • Endocrinology and Diabetes


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MC4R deficiency is the commonest monogenic form of obesity. Manipulation of the melanocortin pathway may prove to be a key drug target for obesity. While at present there is no specific therapy for MC4R deficiency, it is highly likely that these patients would respond well to pharmacotherapy that overcame the reduction in the hypothalamic melanocortinergic tone that exists. As most patients are heterozygotes with one functional allele intact, it is possible that small-molecule MC4R agonists might, in future, be appropriate treatments for this disorder.

Chapter.  1922 words.  Illustrated.

Subjects: Clinical Genetics ; Endocrinology and Diabetes

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