上海交通大学学报（医学版）

上海交通大学学报（医学版）

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精神分裂症断裂基因1的生物学特性及相关信号通路

毛金丽1，李文玲2，娄 燕3   

  1. 1.河北医科大学 研究生学院， 石家庄 050017； 2.河北省人民医院功能神经外科， 石家庄 050051； 3.河北省人民医院儿科， 石家庄 050051
  • 出版日期:2014-07-28 发布日期:2014-08-11
  • 通讯作者: 娄 燕, 电子信箱: 13231195903@163.com。
  • 作者简介:毛金丽（1985—）， 女， 硕士生; 电子信箱: 1824656869@qq.com。

Biological characteristics of disrupted-in-schizophrenia 1 and relevant signaling pathways

MAO Jin-li1, LI Wen-ling2, Lou Yan3   

  1. 1.School of Graduate, Hebei Medical University, Shijiazhuang 050017, China; 2.Department of Functional Neurosurgery, Hebei General Hospital, Shijiazhuang 050051, China; 3.Department of Pediatrics, Hebei General Hospital, Shijiazhuang 050051, China
  • Online:2014-07-28 Published:2014-08-11

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摘要：

精神分裂症断裂基因1 （DISC1）是精神疾病的重要候选基因, 是精神分裂症、双相情感障碍、抑郁症、自闭症和阿斯伯格综合征的一个共同的危险因素。许多遗传研究证实，DISC1不只是与精神分裂症有关，而且与各种伴有神经发育异常和细胞内的脑功能障碍信号通路有关。目前对DISC1在中枢神经系统作用的研究主要集中在神经元发生和神经元突触发育方面，如神经元的成熟、增殖、迁移、定位、分化，树突生长和突触可塑性等。DISC1编码DISC1蛋白, DISC1蛋白是一种多功能支架蛋白，它在成人大脑，尤其在海马齿状回的神经发生和神经发育方面具有重要的作用。DISC1有望成为精神疾病和癫的一个治疗靶点。本文就DISC1的生物学特性及主要相关信号通路作一综述。

关键词: 精神分裂症断裂基因1, 信号通路, 神经发生, 癫

Abstract:

Disrupted-in-schizophrenia 1 (DISC1) is a key candidate gene involved in the pathogenesis of schizophrenia and a general risk factor for schizophrenia, schizoaffective disorder, bipolar disorder, major depression, autism, and Asperger. Many genetic studies have indicated that DISC1 is relevant to not only the schizophrenia, but also various brain dysfunctions associated with aberrant neurodevelopment and intracellular signaling pathways. Studies on DISC1 in the central nerve system mainly focus on the neurogenesis and neuronal synapse development, such as neuronal maturation, proliferation, migration, positioning, differentiation, dendritic growth, and synaptic plasticity. The DISC1 gene codes the DISC1 protein, which is a multifunctional scaffold protein and plays an important role in neurogenesis and neural development of the adult brain, especially in the dentate gyrus (DG) of the hippocampus. DISC1 is expected to be a therapeutic target of mental illness and epilepsy. This paper reviews the biological characteristics of DISC1 and relevant signaling pathways.

Key words: disrupted-in-schizophrenia 1, signaling pathway, neurogenesis, epilepsy