Department of Genetics, Development and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece.
Gene and Cell Therapy Center, Hematology Clinic, George Papanikolaou Hospital, Exokhi, 57010 Thessaloniki, Greece.
Genes (Basel). 2022 Nov 27;13(12):2222. doi: 10.3390/genes13122222.
The tremendous evolution of genome-editing tools in the last two decades has provided innovative and effective approaches for gene therapy of congenital and acquired diseases. Zinc-finger nucleases (ZFNs), transcription activator- like effector nucleases (TALENs) and CRISPR-Cas9 have been already applied by ex vivo hematopoietic stem cell (HSC) gene therapy in genetic diseases (i.e., Hemoglobinopathies, Fanconi anemia and hereditary Immunodeficiencies) as well as infectious diseases (i.e., HIV), and the recent development of CRISPR-Cas9-based systems using base and prime editors as well as epigenome editors has provided safer tools for gene therapy. The ex vivo approach for gene addition or editing of HSCs, however, is complex, invasive, technically challenging, costly and not free of toxicity. In vivo gene addition or editing promise to transform gene therapy from a highly sophisticated strategy to a "user-friendly' approach to eventually become a broadly available, highly accessible and potentially affordable treatment modality. In the present review article, based on the lessons gained by more than 3 decades of ex vivo HSC gene therapy, we discuss the concept, the tools, the progress made and the challenges to clinical translation of in vivo HSC gene editing.
在过去的二十年中,基因组编辑工具的巨大发展为先天性和获得性疾病的基因治疗提供了创新和有效的方法。锌指核酸酶 (ZFNs)、转录激活样效应核酸酶 (TALENs) 和 CRISPR-Cas9 已经被应用于造血干细胞 (HSC) 的体外基因治疗,用于治疗遗传性疾病(如血红蛋白病、范可尼贫血和遗传性免疫缺陷)和传染病(如 HIV),最近基于 CRISPR-Cas9 的系统的发展,使用碱基编辑和先导编辑以及表观基因组编辑工具,为基因治疗提供了更安全的工具。然而,HSCs 的体外基因添加或编辑方法复杂、具有侵入性、技术上具有挑战性、成本高且并非没有毒性。体内基因添加或编辑有望将基因治疗从一种高度复杂的策略转变为一种“用户友好”的方法,最终成为一种广泛可用、高度可及且具有潜在可负担性的治疗方式。在本文综述中,基于超过 30 年的 HSC 体外基因治疗经验,我们讨论了体内 HSC 基因编辑的概念、工具、进展和临床转化的挑战。