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用CRISPR/Cas9编辑的人类多能干细胞对三类糖原储存疾病的病理建模

Lucille Rossiaud^1,2,3,4,5, Pascal Fragner^1,2,3, Elena Barbon^4,5

¹CECS, I-Stem, Corbeil-Essonnes, France.

Frontiers in cell and developmental biology

|May 30, 2023

概括

研究人员开发了一种新的人类干细胞模型,用于治疗三型糖原储存疾病 (GSDIII). 这个模型精确地模仿了疾病.

科学领域:

生物化学生物化学
遗传学遗传学是一个
细胞生物学细胞生物学

背景情况:

糖原储存疾病类型III (GSDIII) 是由AGL基因的突变引起的,导致糖原分支酶 (GDE) 缺乏.
这种缺乏会导致肝脏,骨肌肉和心脏中的糖原积累,渐进性肌肉病是成年患者的主要负担.
目前,GSDIII.III没有治愈治疗方法.

研究的目的:

建立一个稳定的AGL淘汰人类诱导多能干细胞 (hiPSC) 线来研究GSDIII.
使用这种新型细胞模型,研究 GSDIII 中的糖原代谢.
探索GSDIII的潜在基因治疗方法.

主要方法:

利用CRISPR/Cas9基因编辑来创建一个AGL淘汰赛hiPSC系.
分化编辑和控制hiPSC线路变成骨肌细胞.
在葡萄糖饥饿下评估糖原积累和GDE表达.
评估了AAV介导的GDE基因疗法的疗效.

主要成果:

来自hiPSC的AGL淘汰赛骨肌细胞表现出GDE表达的丧失和持续的糖原积累.
这些编辑的细胞在表型上重复了来自GSDIII患者的骨肌细胞.
使用表达人类GDE的重组AAV载体的治疗成功清除了累积的葡萄糖原.

结论:

这项研究为GSDIII.III提供了第一个hiPSC衍生骨肌细胞模型.
该模型作为GSDIII.III肌肉病理学的机械研究的平台.
这些发现支持基因治疗治疗GSDIII的潜力.

关键词:

这就是CRISPR/Cas9的作用.糖原储存疾病糖原储存疾病诱导的多能干细胞干细胞.肌肉疾病肌肉疾病骨肌肉细胞是骨肌肉细胞.

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