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定向工程改造高表达嵌合转基因作为A型血友病基因治疗的一种策略。

Directed engineering of a high-expression chimeric transgene as a strategy for gene therapy of hemophilia A.

作者信息

Doering Christopher B, Denning Gabriela, Dooriss Kerry, Gangadharan Bagirath, Johnston Jennifer M, Kerstann Keith W, McCarty David A, Spencer H Trent

机构信息

Aflac Cancer Center and Blood Disorders Service, Department of Pediatrics, Emory University, Atlanta, Georgia 30322, USA.

出版信息

Mol Ther. 2009 Jul;17(7):1145-54. doi: 10.1038/mt.2009.35. Epub 2009 Mar 3.

Abstract

Human coagulation factor VIII (fVIII) is inefficiently biosynthesized in vitro and has proven difficult to express at therapeutic levels using available clinical gene-transfer technologies. Recently, we showed that a porcine and certain hybrid human/porcine fVIII transgenes demonstrate up to 100-fold greater expression than human fVIII. In this study, we extend these results to describe the use of a humanized, high-expression, hybrid human/porcine fVIII transgene that is 89% identical to human fVIII and was delivered by lentiviral vectors (LVs) to hematopoietic stem cells for gene therapy of hemophilia A. Recombinant human immunodeficiency virus-based vectors encoding the fVIII chimera efficiently transduced human embryonic kidney (HEK)-293T cells. Cells transduced with hybrid human/porcine fVIII encoding vectors expressed fVIII at levels 6- to 100-fold greater than cells transduced with vectors encoding human fVIII. Transplantation of transduced hematopoietic stem and progenitor cells into hemophilia A mice resulted in long-term fVIII expression at therapeutic levels despite <5% genetically modified blood mononuclear cells. Furthermore, the simian immunodeficiency virus (SIV) -derived vector effectively transduced the human hematopoietic cell lines K562, EU1, U.937, and Jurkat as well as the nonhematopoietic cell lines, HEK-293T and HeLa. All cell lines expressed hybrid human/porcine fVIII, albeit at varying levels with the K562 cells expressing the highest level of the hematopoietic cell lines. From these studies, we conclude that humanized high-expression hybrid fVIII transgenes can be utilized in gene therapy applications for hemophilia A to significantly increase fVIII expression levels compared to what has been previously achieved.

摘要

人凝血因子VIII(fVIII)在体外生物合成效率低下,并且已证明使用现有的临床基因转移技术难以达到治疗水平的表达。最近,我们发现猪源及某些人/猪杂交fVIII转基因的表达水平比人fVIII高近100倍。在本研究中,我们扩展了这些结果,描述了一种人源化、高表达的人/猪杂交fVIII转基因的应用,该转基因与人类fVIII的同源性为89%,通过慢病毒载体(LVs)导入造血干细胞用于A型血友病的基因治疗。编码fVIII嵌合体的重组人免疫缺陷病毒载体能够有效地转导人胚肾(HEK)-293T细胞。用编码人/猪杂交fVIII的载体转导的细胞表达fVIII的水平比用编码人fVIII的载体转导的细胞高6至100倍。将转导的造血干细胞和祖细胞移植到A型血友病小鼠体内,尽管基因修饰的血液单核细胞<5%,仍能在治疗水平上实现fVIII的长期表达。此外,猿猴免疫缺陷病毒(SIV)衍生载体能有效地转导人造血细胞系K562、EU1、U.937和Jurkat以及非造血细胞系HEK-293T和HeLa。所有细胞系均表达人/猪杂交fVIII,尽管表达水平各不相同,其中K562细胞在造血细胞系中表达水平最高。从这些研究中,我们得出结论,与人fVIII相比,人源化高表达杂交fVIII转基因可用于A型血友病的基因治疗,显著提高fVIII表达水平。

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