Monogenic human obesity

Front Horm Res. 2008;36:1-11. doi: 10.1159/000115333.

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.

Publication types

  • Review

MeSH terms

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

Substances

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