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在人类iPSC衍生的神经元中检测MUNC18-1相关的先突触功能障碍和救援

Manzhao Long¹, Nicholas B Gallo¹, Jennifer Zoll¹

¹Biogen, Cambridge, MA, USA.

Scientific reports

|October 1, 2025

概括

人类诱导的多能干细胞衍生神经元在STXBP1淘汰赛模型中显示了前突触功能障碍. 神经生理学工具成功地检测和拯救了这些突触缺陷,为药物开发提供了洞察力.

科学领域:

神经科学是一个神经科学.
干细胞生物学干细胞生物学
遗传学遗传学是一个

背景情况:

人类诱导多能干细胞 (hiPSC) 衍生的神经元对于药物开发中的疾病建模具有价值.
合成素结合蛋白1 (STXBP1) 编码MUNC18-1,这是一个对突触囊功能至关重要的蛋白质.
STXBP1突变与神经发育障碍有关.

研究的目的:

在缺少STXBP1.1的NGN2-分化的hiPSC神经元中表征神经生理现象.
通过STXBP1复制来评估突触功能障碍的救援.
验证一套神经生理学工具用于研究突触传播.

主要方法:

利用多电极阵列 (MEA) 和成像来评估网络活动.
测量微型突触后电流 (mPSCs),以评估突触功能.
在培养介质中量化释放谷氨酸.
在基因重组中使用基因相关病毒 (AAV) 转导.

主要成果:

STXBP1淘汰NGN2神经元表现出缺乏mPSC,并破坏了网络爆发.
通过在淘汰神经元中降低谷氨酸释放来证实了预突触缺陷.
AAV介导的STXBP1溶解剂量取决于所观察到的突触表型.

结论:

在人类iPSC衍生的神经元中,STXBP1对于正常的前突触功能至关重要.
描述的神经生理学方法对于研究突触传播是有效的.
该模型系统为研究STXBP1相关疾病和治疗干预提供了一个平台.

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