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接受干细胞基因治疗的腺苷脱氨酶严重联合免疫缺陷(ADA-SCID)患者多谱系造血重建且无克隆选择

Multilineage hematopoietic reconstitution without clonal selection in ADA-SCID patients treated with stem cell gene therapy.

作者信息

Aiuti Alessandro, Cassani Barbara, Andolfi Grazia, Mirolo Massimiliano, Biasco Luca, Recchia Alessandra, Urbinati Fabrizia, Valacca Cristina, Scaramuzza Samantha, Aker Memet, Slavin Shimon, Cazzola Matteo, Sartori Daniela, Ambrosi Alessandro, Di Serio Clelia, Roncarolo Maria Grazia, Mavilio Fulvio, Bordignon Claudio

机构信息

San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Milan, Italy.

出版信息

J Clin Invest. 2007 Aug;117(8):2233-40. doi: 10.1172/JCI31666.

Abstract

Gene transfer into HSCs is an effective treatment for SCID, although potentially limited by the risk of insertional mutagenesis. We performed a genome-wide analysis of retroviral vector integrations in genetically corrected HSCs and their multilineage progeny before and up to 47 months after transplantation into 5 patients with adenosine deaminase-deficient SCID. Gene-dense regions, promoters, and transcriptionally active genes were preferred retroviral integrations sites (RISs) both in preinfusion transduced CD34(+) cells and in vivo after gene therapy. The occurrence of insertion sites proximal to protooncogenes or genes controlling cell growth and self renewal, including LMO2, was not associated with clonal selection or expansion in vivo. Clonal analysis of long-term repopulating cell progeny in vivo revealed highly polyclonal T cell populations and shared RISs among multiple lineages, demonstrating the engraftment of multipotent HSCs. These data have important implications for the biology of retroviral vectors, the dynamics of genetically modified HSCs, and the safety of gene therapy.

摘要

将基因导入造血干细胞(HSCs)是治疗重症联合免疫缺陷病(SCID)的一种有效方法,尽管可能会受到插入诱变风险的限制。我们对5例腺苷脱氨酶缺乏型SCID患者移植前以及移植后长达47个月的基因校正造血干细胞及其多谱系后代中的逆转录病毒载体整合情况进行了全基因组分析。在输注前转导的CD34(+)细胞以及基因治疗后的体内,基因密集区域、启动子和转录活性基因都是逆转录病毒整合位点(RISs)的优选位点。原癌基因或控制细胞生长和自我更新的基因(包括LMO2)附近插入位点的出现与体内克隆选择或扩增无关。对体内长期再增殖细胞后代的克隆分析显示,T细胞群体高度多克隆化,多个谱系之间存在共享的RISs,这证明了多能造血干细胞的植入。这些数据对逆转录病毒载体的生物学特性、基因修饰造血干细胞的动态变化以及基因治疗的安全性具有重要意义。

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