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.

Manganese-enhanced magnetic resonance imaging reveals increased DOI-induced brain activity in a mouse model of schizophrenia

“…This discrepancy may be due to differences in the state of the disease or therapy in these patient cohorts. Interestingly, a recent study reported an elevated rate of PLC β1 gene deletions in schizophrenia patients (70). In addition, compared with controls, MIA offspring display an elevated RGS4 level in the PFC.…”

Comparison of Phosphoinositide-Specific Phospholipase C Expression Panels of Human Osteoblasts Versus MG-63 and Saos Osteoblast-Like Cells

“…Knowledge of the expression panels of PI-PLC enzymes is a necessary and preliminary tool to address studies about their role in quiescent cells. Moreover, the expression panels of PI-PLC enzymes have been demonstrated to differ in quiescent cells with respect to the pathological or activated counterpart (18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30).…”

Knockdown of phospholipase C-β1 in the medial prefrontal cortex of male mice impairs working memory among multiple schizophrenia endophenotypes

“…4,[9][10][11][12] Moreover, decreased expression of PLCβ1 has been detected in the brains of patients with schizophrenia. [13][14][15][16][17][18] Schizophrenia symptoms are categorized into 3 major types 19,20 -positive, negative and cognitive -and a majority of these symptoms have been observed as endophenotypes in PLCβ1null (PLCβ1 −/− ) mice. [9][10][11][12] These symptoms include increased locomotion, impaired social behaviour, impaired prepulse inhibition (PPI), and impaired working memory.…”