Indentification of mutations in excitatory amino acid receptor gene in schizophrenia

N-甲基-D-天冬氨酸(NMDA)受体拮抗剂已知会产生一种类似精神分裂症的综合征，可能是由于它们阻断了NMDA受体。NMDA受体2B(NR2B)亚单位是谷氨酸能突触突触后密度的主要蛋白质之一。大脑中NR2B亚单位的失调可能与精神分裂症的病因有关，这与这种疾病的起源的神经发育假说是一致的。我们筛选了精神分裂症患者NR2B亚单位基因的遗传变异，并研究了NR2B亚单位基因的一种新的多态性与精神分裂症的相关性。在NR2B亚单位基因编码胞内羧基末端区域发现1个沉默突变(2664C/T)。精神分裂症患者2664C/T等位基因频率和等位基因频率与正常对照组比较差异无统计学意义。我们的发现没有证据表明精神分裂症与NR2B亚单位2664C/T多态有关。

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.