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NCAM1基因多态性与精神分裂症遗传易感性可能相关

2014-12-11 MedSci MedSci原创

精神分裂症是一类病因复杂的重症精神疾患。目前,对于精神分裂症的发病机制存在多种假说,包括神经递质假说、神经元连接假说、神经发育假说及神经细胞膜磷脂代谢异常假说等,但这些假说迄今都不能完全解释精神分裂症发病机制的复杂性。 中国科学院昆明动物研究所姚永刚研究组张文博士等针对我国汉族人群精神分裂症患者,开展了介导神经元连接的神经细胞粘连因子1(neural cell adhesion molecu

精神分裂症是一类病因复杂的重症精神疾患。目前,对于精神分裂症的发病机制存在多种假说,包括神经递质假说、神经元连接假说、神经发育假说及神经细胞膜磷脂代谢异常假说等,但这些假说迄今都不能完全解释精神分裂症发病机制的复杂性。

中国科学院昆明动物研究所姚永刚研究组张文博士等针对我国汉族人群精神分裂症患者,开展了介导神经元连接的神经细胞粘连因子1(neural cell adhesion molecule 1,NCAM1)基因变异的分析,发现该基因启动子区的多态位点rs2301228与精神分裂症遗传相关,这一结果可在来自不同地区的独立样本中得到验证。针对rs2301228位点的进一步分析表明,易感等位基因“A”可显著降低该基因的转录水平。

同时,研究发现精神分裂症患者的血浆NCAM1水平远低于正常人;在猕猴神经元前体细胞定向分化成神经元的过程中,NCAM1基因的转录水平明显增高。上述研究结果表明,NCAM1的表达水平与神经元发育和精神分裂症密切相关,位于该基因启动子区的rs2301228位点可通过调控NCAM1基因的转录进而影响精神分裂症的发生。该研究对精神分裂症发病机制的神经元连接假说和神经发育假说提供了证据。

该研究结果近期发表于Schizophrenia Research

中南大学湘雅附二院陈晓岗研究组、昆明动物所郑萍研究组、昆明医科大学附一院许秀峰主任科室是该工作的合作团队。该研究得到中国科学院战略性先导科技专项支持。

原始出处:

Zhang W, Xiao MS, Ji S, Tang J, Xu L, Li X, Li M, Wang HZ, Jiang HY, Zhang DF, Wang J, Zhang S, Xu XF, Yu L, Zheng P, Chen X, Yao YG.Promoter variant rs2301228 on the neural cell adhesion molecule 1 gene confers risk of schizophrenia in Han Chinese. Schizophr Res. 2014 Dec;160(1-3):88-96

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    2015-04-25 whmdzju
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    2014-12-13 xzw120

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英国一项最新研究发现,早老性痴呆症(阿尔茨海默氏症)与精神分裂症的病变发生在同样的大脑区域,证实了此前对这两种疾病相关的猜测,将有助于探索它们的发病机制。 早老性痴呆症是一种神经系统退行性疾病,精神分裂症则属于功能性精神障碍,目前科学界对两者的发病原因和机制尚无定论。有研究人员推测,尽管这两种疾病的症状几乎完全不同,但它们之间似乎存在某种关联。 英国牛津大学等机构研究人员在新一期美国《国家科学

眼睛活动可判断精神分裂症

俗话说,“眼睛是心灵的窗口”。日本一个研究小组近日宣布,通过检测眼睛的活动,还可以判断人是否患上了精神分裂症。这一发现将有望促进开发出精神分裂症早期诊断新方法。 精神分裂症是一组病因未明的重度精神病,临床上往往表现为症状各异的综合征,可涉及感知觉、思维、情感、意志行为及认知功能等方面。精神疾病的客观诊断非常困难,不同医生也许会诊断出不同的结果,也难以通过具体的检查数值向患者和家属进行说明。

Stem Cell Reports:精神分裂患者儿茶酚胺类递质分泌增多

最近,美国加州大学圣地亚哥分校Skaggs药学和制药科学学院的研究人员,利用人类诱导多能干细胞(hiPSCs),发现来自精神分裂症患者的神经元可分泌更高数量的三种神经递质,这三种神经递质与一系列精神疾病有广泛关系。 相关研究结果发表在2014年9月11日的Stem Cell Reports杂志,是向了解精神分裂症化学基础的重要一步,精神分裂症是一种慢性的、严重的脑部疾病,影响

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