title: CD36 expression and its relationship with obesity in blood cells from people with and without Prader-Willi syndrome.
abstract: Although Prader-Willi syndrome (PWS) has been linked to the loss of function of imprinted genes in 15q11q13, very little is known about the pathogenesis. Using quantitative real-time PCR, we have confirmed the previous observation of an abnormality of CD36 expression in cells with maternal uniparental disomy 15, obtained from a proband with mosaicism for PWS, by demonstrating reduced expression levels in blood cells from a series of non-mosaic probands with PWS. Furthermore, we have extended these observations to show that CD36 expression in a non-PWS population is inversely correlated with body mass index but that this correlation does not hold in PWS. CD36 which maps to 7q11.2 is the first gene outside the 15q11q13 region whose level of expression appears to be reduced in people with PWS. Low CD36 expression levels in PWS point to an abnormal control of lipid and glucose homeostasis which may explain the insatiable hunger in these patients.
authors.affiliation: Section of Medical and Molecular Genetics, University of Birmingham, Birmingham, UK. t.webb@bham.ac.uk
authors.forename: T
authors.initials: T
authors.lastname: Webb
authors.forename: J
authors.initials: J
authors.lastname: Whittington
authors.forename: A J
authors.initials: AJ
authors.lastname: Holland
authors.forename: S
authors.initials: S
authors.lastname: Soni
authors.forename: H
authors.initials: H
authors.lastname: Boer
authors.forename: D
authors.initials: D
authors.lastname: Clarke
authors.forename: B
authors.initials: B
authors.lastname: Horsthemke
mesh_terms: D000328:Adult; D015992:Body Mass Index; D018955:CD36 Antigens / Q000097:blood* / Q000235:genetics / Q000378:metabolism; D016022:Case-Control Studies; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D009765:Obesity / Q000097:blood / Q000235:genetics / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D011218:Prader-Willi Syndrome / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D024182:Uniparental Disomy / Q000235:genetics
chemical_list: D018955:CD36 Antigens