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产生异构性多能干细胞,其区别仅在两个早期发病的帕金森点突变中

Frank Soldner¹, Josée Laganière, Albert W Cheng

¹The Whitehead Institute, 9 Cambridge Center, Cambridge, MA 02142, USA.

|July 16, 2011

概括

研究人员为帕金森病的研究创造了异构性疾病并控制了人类多能干细胞. 这一进步使得使用患者特异性诱导多能干细胞对晚发病症的基因定义研究成为可能.

科学领域:

干细胞生物学干细胞生物学
遗传学是一个遗传学.
神经科学是一个神经科学.

背景情况:

患者特异性诱导多能干细胞 (iPSCs) 对疾病研究和细胞治疗有价值.
由于微妙的体外表型和遗传背景变异,研究晚发性疾病具有挑战性.
基因定义的实验条件对于准确的疾病建模至关重要.

研究的目的:

为疾病研究开发一种创造基因定义,同源性人类多能干细胞系的方法.
解决患者衍生的iPSC中微妙表型的研究疾病的局限性.
为了产生疾病和控制细胞系,只在特定的帕金森病易感变异中有所不同.

主要方法:

使用指核酶 (ZFN) 介导的基因组编辑与iPSC技术相结合.
在患者衍生的人类iPSCs (hiPSCs) 中,α-synuclein基因的修饰点突变.
生成的同源性疾病和控制性hiPSC线的集合,在帕金森病易感性变体上有所不同.

主要成果:

成功生成了与帕金森病相关的精确遗传修饰的异构性hiPSC线.
证明了患者衍生的hiPSCs中纠正引起疾病的点突变的能力.
建立了一种适用于创建基因定义的多能干细胞模型的方法.

结论:

结合ZFN和iPSC技术,为创建基因定义疾病模型提供了通用的解决方案.
在患者衍生的hiPSC中基因纠正突变显著推进了基础生物医学研究.
这种方法代表了向开发有效的基于hiPSC的神经疾病的细胞替代疗法的进展.

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