Prader-Willi syndrome: advances in genetics, pathophysiology and treatment.
Prader-Willi syndrome (PWS) is a complex human genetic disease that arises from lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. Identification of the imprinting control centre, novel imprinted genes and distinct phenotypes in PWS patients and mouse models has increased interest in this human obesity syndrome. In this review I focus on: (i) the chromosomal region and candidate genes associated with PWS, and the possible links with individual PWS phenotypes identified using mouse models; (ii) the metabolic and hormonal phenotypes in PWS; (iii) postmortem studies of human PWS hypothalami; and (iv) current and potential advances in the management of PWS and its complications. This could have benefits for a wide spectrum of endocrine, paediatric and neuropsychiatric diseases.
Goldstone
Anthony P
AP
Department of Endocrinology, St Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK. tgoldstone@yahoo.com
D000818:Animals; D002884:Chromosomes, Human, Pair 15; D005768:Gastrointestinal Hormones / Q000378:metabolism; D005786:Gene Expression Regulation; D018392:Genomic Imprinting / Q000235:genetics*; D054439:Ghrelin; D006801:Humans; D006963:Hyperphagia / Q000150:complications / Q000235:genetics; D007031:Hypothalamus / Q000503:physiopathology*; D020738:Leptin / Q000378:metabolism; D009765:Obesity / Q000235:genetics; D036361:Peptide Hormones / Q000378:metabolism; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D012701:Serotonin / Q000378:metabolism
D005768:Gastrointestinal Hormones; D054439:Ghrelin; D020738:Leptin; D036361:Peptide Hormones; D012701:Serotonin