Monogenic human obesity.

Abstract

We and others have identified several single gene defects that disrupt the molecules in the leptinmelanocortin pathway causing severe obesity in humans. In this review, we consider these human monogenic obesity syndromes and discuss how far the characterisation of these patients has informed our understanding of the physiological role of leptin and the melanocortins in the regulation of human body weight and neuroendocrine function.

• Authors: I Sadaf Farooqi
• Journal: Frontiers of hormone research (Front Horm Res) Vol. 36 Pg. 1-11 ( 2008) ISSN: 0301-3073 [Print] Switzerland
• PMID: 18230891 (Publication Type: Journal Article, Review)

Chemical References

• LEPR protein, human
• Leptin
• MC4R protein, human
• Receptor, Melanocortin, Type 4
• Receptors, Leptin
• Recombinant Proteins
• Pro-Opiomelanocortin
• Receptor, trkB
• Proprotein Convertase 1

Topics

• Body Weight (genetics)
• Child
• Child, Preschool
• Humans
• Leptin (deficiency, genetics, therapeutic use)
• Mutation
• Obesity (drug therapy, genetics)
• Phenotype
• Pro-Opiomelanocortin (deficiency, genetics)
• Proprotein Convertase 1 (genetics)
• Receptor, Melanocortin, Type 4 (deficiency, genetics)
• Receptor, trkB (genetics)
• Receptors, Leptin (deficiency, genetics)
• Recombinant Proteins (therapeutic use)