Indentification of mutations in excitatory amino acid receptor gene in schizophrenia

点击翻译按钮获取中文摘要

N-methyl-D-aspartate (NMDA) receptor antagonists are known to produce a syndrome resembling schizophrenia, probably due to their blockade of NMDA receptors. The NMDA receptor 2B (NR2B) subunit has been identified as one of the major proteins in the postsynaptic density at glutamatergic synapses. Dysregulation of the NR2B subunit in the brain may be involved in the etiology of schizophrenia , consistent with the neurodevelopment hypothesis for the origin of this disorder. We screened for the genetic variation the NR2B subunit gene in patients with schizophrenia and studied the association between schizophrenia and a novel polymorphism of the NR2B subunit gene. One silent mutation (2664C/T) was identified in the region of NR2B subunit gene encoding the carboxyl-terminal intracellular domain. No significant differences in the frequencies of 2664C/T genotypes and alleles were found between patients with schizophrenia and healthy comparison subjects. Our findings provided no evidence association between schizophrenia and the 2664C/T polymorphism of the NR2B subunit.