title: COMT Val(158) met genotype and striatal D(2/3) receptor binding in adults with 22q11 deletion syndrome.
abstract: Although catechol-O-methyltransferase (COMT) activity evidently affects dopamine function in prefrontal cortex, the contribution is assumed less significant in striatum. We studied whether a functional polymorphism in the COMT gene (Val(158) Met) influences striatal D(2/3) R binding ratios (D(2/3) R BP(ND) ) in 15 adults with 22q11 deletion syndrome and hemizygous for this gene, using single photon emission computed tomography and the selective D(2/3) radioligand [(123) I]IBZM. Met hemizygotes had significantly lower mean D(2/3) R BPND than Val hemizygotes. These preliminary data suggest that low COMT activity may affect dopamine levels in striatum in humans and this may have implications for understanding the contribution of COMT activity to psychiatric disorders.
authors.affiliation: Department of Psychiatry, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. h.j.boot@amc.uva.nl
authors.forename: Erik
authors.initials: E
authors.lastname: Boot
authors.forename: Jan
authors.initials: J
authors.lastname: Booij
authors.forename: Janneke R
authors.initials: JR
authors.lastname: Zinkstok
authors.forename: Frank
authors.initials: F
authors.lastname: Baas
authors.forename: Ann
authors.initials: A
authors.lastname: Swillen
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Owen
authors.forename: Declan G
authors.initials: DG
authors.lastname: Murphy
authors.forename: Kieran C
authors.initials: KC
authors.lastname: Murphy
authors.forename: Don H
authors.initials: DH
authors.lastname: Linszen
authors.forename: Thérèse A
authors.initials: TA
authors.lastname: Van Amelsvoort
mesh_terms: D058165:22q11 Deletion Syndrome / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D000328:Adult; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D003342:Corpus Striatum / Q000000981:diagnostic imaging / Q000378:metabolism*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics; D011485:Protein Binding / Q000235:genetics; D017448:Receptors, Dopamine D2 / Q000378:metabolism*; D050637:Receptors, Dopamine D3 / Q000378:metabolism*; D015899:Tomography, Emission-Computed, Single-Photon; D014633:Valine / Q000235:genetics; D055815:Young Adult
chemical_list: D017448:Receptors, Dopamine D2; D050637:Receptors, Dopamine D3; D008715:Methionine; D002394:Catechol O-Methyltransferase; D014633:Valine