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针对人类重复繁殖的造血干细胞的定向基因组编辑

Pietro Genovese¹, Giulia Schiroli^1,2, Giulia Escobar^1,2

¹TIGET, San Raffaele Telethon Institute for Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.

|May 30, 2014

概括

人类造血干细胞 (HSC) 中的基因编辑现在可以用于基因治疗. 这一突破使得针对严重联合免疫缺陷 (SCID-X1) 等疾病的向基因校正成为可能.

科学领域:

* 血液学血液学
* 分子生物学 * 分子生物学
* 基因疗法基因疗法

背景情况:

*使用人工核酶进行定向基因组编辑,旨在进行特定站点的转基因整合和基因校正.
* 由于基因转移和DNA修复有限,在长期再生造血干细胞 (HSC) 中的应用具有挑战性.
* 障碍包括对基因转移的容许性差以及人类HSCs的低同质导向DNA修复能力.

研究的目的:

* 克服基因向人类HSCs的障碍.
*为了证明基因编辑HSCs的成功的特定地点集成和长期的多谱系重新填充.
*为了验证与X相关的严重联合免疫缺陷 (SCID-X1) 的治疗潜力.

主要方法:

*采用量身定制的输送平台和优化的培养条件来增强基因转移和修复.
* 通过在移植小鼠中进行长期多谱系重新填充试验,获得了针对性整合的强有力的证据.
*基因编辑专注于从健康捐赠者和SCID-X1患者的HSC中纠正IL2RG基因.

主要成果:

*成功地将纠正DNA集成到人类HSC的IL2RG基因中得到证实.
*经过基因编辑的HSC显示持续正常的血液形成,并产生功能性淋巴细胞.
* 编辑的淋巴细胞比具有破坏性IL2RG突变的未编辑细胞具有选择性生长优势.

结论:

* 这项研究成功克服了人类HSC基因向的关键障碍.
*这种策略对SCID-X1和其他遗传疾病具有显著的治疗潜力.
*这些发现为HSC的基因疗法应用开辟了新的途径.

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