Neurology:δ-连环链蛋白基因突变是家族性皮质肌阵挛性震颤和癫痫的致病基因

2017-11-11 zhangfan MedSci原创

研究认为,对于家族性皮质肌阵挛性震颤和癫痫患者,CTNND2基因是重要的致病基因,可导致患者小脑浦肯野细胞形态学异常

近日研究人员在荷兰开展研究,考察家族性皮质肌阵挛性震颤和癫痫(FCMTE)患者的致病基因突变情况。

研究人员对3名FCMTE患者进行外显子测序,之后分别在δ-连环链蛋白(CTNND2)过表达野生型和突变型的皮质小鼠神经元模型中进行基因敲除,考察基因敲除对疾病的影响。通过尸检考察患者的脑形态异常。

研究发现,CTNND2 基因中的p.Glu1044Lys突变是致病突变,与FCMTE症状相关。敲除CTNND2基因,可使野生型小鼠神经轴突生长增加,但对突变型无显著影响。CTNND2可导致FCMTE患者小脑浦肯野细胞的形态学异常。

研究认为,对于家族性皮质肌阵挛性震颤和癫痫患者,CTNND2基因是重要的致病基因,可导致患者小脑浦肯野细胞形态学异常。

原始出处:

Anne-Fleur van Rootselaar et al. δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. Neurology. November 10 2017.

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    2017-12-07 zxl729
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    2018-08-31 yinhl1978
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    2017-11-15 神功盖世

    学习

    0

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content=学习了.谢谢., beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Sat Nov 11 10:40:47 CST 2017, time=2017-11-11, status=1, ipAttribution=)]
    2017-11-15 大爰

    学习了谢谢分享!!

    0

  5. 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content=学习了.谢谢., beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Sat Nov 11 10:40:47 CST 2017, time=2017-11-11, status=1, ipAttribution=)]
    2017-11-14 杏林后生

    0

  6. 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  7. 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content=学习了.谢谢., beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Sat Nov 11 10:40:47 CST 2017, time=2017-11-11, status=1, ipAttribution=)]
    2017-11-12 kalseyzl
  8. 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content=学习了.谢谢., beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Sat Nov 11 10:40:47 CST 2017, time=2017-11-11, status=1, ipAttribution=)]
    2017-11-12 wetgdt
  9. 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content=学习了.谢谢., beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Sat Nov 11 10:40:47 CST 2017, time=2017-11-11, status=1, ipAttribution=)]
    2017-11-12 jyzxjiangqin

    家族性皮质肌阵挛性震颤.

    0

  10. 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content=学习了.谢谢., beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Sat Nov 11 10:40:47 CST 2017, time=2017-11-11, status=1, ipAttribution=)]
    2017-11-11 惠映实验室

    学习了.谢谢.

    0