Deletion of PLCB1 gene in schizophrenia-affected patients

作者：Lo Vasco Vincenza Rita^*; Cardinale Giuseppina; Polonia Patrizia

来源：Journal of Cellular and Molecular Medicine, 2012, 16(4): 844-851.

DOI：10.1111/j.1582-4934.2011.01363.x

• PLCB1
• schizophrenia
• orbito-frontal cortex
• PFC
• genetics
• signal transduction
• I-FISH

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 beta 1 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.

• 出版日期2012-4