Genetics of Obesity in Humans

Endocr Rev. 2006 Dec;27(7):710-18. doi: 10.1210/er.2006-0040. Epub 2006 Nov 22.

Abstract

Considerable attention has focused on deciphering the hypothalamic pathways that mediate the behavioral and metabolic effects of leptin. We and others have identified several single gene defects that disrupt the molecules in the leptin-melanocortin pathway causing severe obesity in humans. In this review, we consider these human monogenic obesity syndromes and discuss how far the characterization 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
  • Body Weight / physiology
  • Humans
  • Leptin / genetics*
  • Leptin / physiology
  • Melanocortins / genetics*
  • Melanocortins / physiology
  • Mutation / genetics*
  • Mutation / physiology
  • Neurosecretory Systems / physiopathology
  • Obesity / genetics*
  • Obesity / physiopathology
  • Pro-Opiomelanocortin / genetics
  • Pro-Opiomelanocortin / physiology
  • Proprotein Convertase 1 / genetics
  • Proprotein Convertase 1 / physiology
  • Receptor, Melanocortin, Type 4 / genetics
  • Receptor, Melanocortin, Type 4 / physiology
  • Receptor, trkB / genetics
  • Receptor, trkB / physiology
  • Signal Transduction / genetics
  • Signal Transduction / physiology

Substances

  • Leptin
  • MC4R protein, human
  • Melanocortins
  • Receptor, Melanocortin, Type 4
  • Pro-Opiomelanocortin
  • Receptor, trkB
  • Proprotein Convertase 1