title: Genetics of obesity in humans.
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.
authors.affiliation: University Departments of Medicine and Clinical Biochemistry, Box 232, Addenbrooke's Hospital, Cambridge CB2 2QQ, United Kingdom.
authors.forename: Sadaf
authors.initials: S
authors.lastname: Farooqi
authors.forename: Stephen
authors.initials: S
authors.lastname: O'Rahilly
mesh_terms: D001835:Body Weight / Q000235:genetics / Q000502:physiology; D006801:Humans; D020738:Leptin / Q000235:genetics* / Q000502:physiology; D053486:Melanocortins / Q000235:genetics* / Q000502:physiology; D009154:Mutation / Q000235:genetics* / Q000502:physiology; D009490:Neurosecretory Systems / Q000503:physiopathology; D009765:Obesity / Q000235:genetics* / Q000503:physiopathology; D011333:Pro-Opiomelanocortin / Q000235:genetics / Q000502:physiology; D045664:Proprotein Convertase 1 / Q000235:genetics / Q000502:physiology; D044105:Receptor, Melanocortin, Type 4 / Q000235:genetics / Q000502:physiology; D020813:Receptor, trkB / Q000235:genetics / Q000502:physiology; D015398:Signal Transduction / Q000235:genetics / Q000502:physiology
chemical_list: D020738:Leptin; C470072:MC4R protein, human; D053486:Melanocortins; D044105:Receptor, Melanocortin, Type 4; D011333:Pro-Opiomelanocortin; D020813:Receptor, trkB; D045664:Proprotein Convertase 1