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Neurology：先天性肌病与Triadin敲除综合征有关

2017-02-16 xing.T MedSci原创

先天性肌病Triadin敲除综合征
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人类Triadin缺失可以导致先天性肌病，其与肌浆网的组件发生病理改变有关。为什么只有一些Triadin缺失的患者发展成骨骼肌疾病表型仍然是一个悬而未决的问题。

Triadin是心肌和骨骼肌钙释放复合体的一个重要组分。近日，神经病学领域权威取杂志Neurology上发表了一篇研究文章，研究人员旨在分析Triadin敲除综合征的骨骼肌表型。

研究人员首先进行了一个临床评价，再通过光学和电子显微镜分析了其形态学特征，并且通过免疫组化将Triadin在骨骼肌中的定位。

研究人员招募了一名因Triadin杂合突变导致的triadin敲除综合征伴有终身肌肉无力的6岁男孩。研究人员通过光学显微镜在该患者的三角肌标本中发现在所有肌肉纤维之间有很多细小的异常间隙。研究人员通过Triadin免疫组化发现1型和2型肌肉中几乎检测不到Triadin的表达。电子显微镜发现了肌浆网外侧池局灶性分布的扩张和退行性病变，并且储存的外侧池triadin锚也有所缺失。

由此可见，人类Triadin缺失可以导致先天性肌病，其与肌浆网的组件发生病理改变有关。为什么只有一些Triadin缺失的患者发展成骨骼肌疾病表型仍然是一个悬而未决的问题。

原始出处：

Andrew G. Engel,et al. Congenital myopathy associated with the triadin knockout syndrome. Neurology.   http://dx.doi.org/10.1212/WNL.0000000000003745

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    2018-01-27 yinhl1978

    #Neurol#

    0

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    2017-02-18 huirong

    #先天性#

    0

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    2017-02-18 zhouqu_8

    #综合征#

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    2017-02-18 爆笑小医

    #肌病#

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