title: Deletion of PLCB1 gene in schizophrenia-affected patients.
abstract: A prevalence of 1% in the general population and approximately 50% concordance rate in monozygotic twins was reported for schizophrenia, suggesting that genetic predisposition affecting neurodevelopmental processes might combine with environmental risk factors. A multitude of pathways seems to be involved in the aetiology and/or pathogenesis of schizophrenia, including dopaminergic, serotoninergic, muscarinic and glutamatergic signalling. The phosphoinositide signal transduction system and related phosphoinositide-specific phospholipase C (PI-PLC) enzymes seem to represent a point of convergence in these networking pathways during the development of selected brain regions. The existence of a susceptibility locus on the short arm of chromosome 20 moved us to analyse PLCB1, the gene codifying for PI-PLC β1 enzyme, which maps on 20p12. By using interphase fluorescent in situ hybridization methodology, we found deletions of PLCB1 in orbito-frontal cortex samples of schizophrenia-affected patients.
authors.affiliation: Department Organi di Senso, Sapienza University of Rome, Rome, Italy. ritalovasco@hotmail.it
authors.forename: Vincenza Rita
authors.initials: VR
authors.lastname: Lo Vasco
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Cardinale
authors.forename: Patrizia
authors.initials: P
authors.lastname: Polonia
mesh_terms: D000293:Adolescent; D000328:Adult; D002890:Chromosomes, Human, Pair 20; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D054799:Phospholipase C beta / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*; D055815:Young Adult
chemical_list: C518033:PLCB1 protein, human; D054799:Phospholipase C beta