Klaver-Flores Stefanie, Zittersteijn Hidde A, Canté-Barrett Kirsten, Lankester Arjan, Hoeben Rob C, Gonçalves Manuel A F V, Pike-Overzet Karin, Staal Frank J T
Department of Immunology, Leiden University Medical Center, Leiden, Netherlands.
Department of Cell and Chemical Biology, Leiden University Medical Center, Leiden, Netherlands.
Front Genome Ed. 2021 Jan 22;2:615619. doi: 10.3389/fgeed.2020.615619. eCollection 2020.
Many gene editing techniques are developed and tested, yet, most of these are optimized for transformed cell lines, which differ from their primary cell counterparts in terms of transfectability, cell death propensity, differentiation capability, and chromatin accessibility to gene editing tools. Researchers are working to overcome the challenges associated with gene editing of primary cells, namely, at the level of improving the gene editing tool components, e.g., the use of modified single guide RNAs, more efficient delivery of Cas9 and RNA in the ribonucleoprotein of these cells. Despite these efforts, the low efficiency of proper gene editing in true primary cells is an obstacle that needs to be overcome in order to generate sufficiently high numbers of corrected cells for therapeutic use. In addition, many of the therapeutic candidate genes for gene editing are expressed in more mature blood cell lineages but not in the hematopoietic stem cells (HSCs), where they are tightly packed in heterochromatin, making them less accessible to gene editing enzymes. Bringing HSCs in proliferation is sometimes seen as a solution to overcome lack of chromatin access, but the induction of proliferation in HSCs often is associated with loss of stemness. The documented occurrences of off-target effects and, importantly, on-target side effects also raise important safety issues. In conclusion, many obstacles still remain to be overcome before gene editing in HSCs for gene correction purposes can be applied clinically. In this review, in a perspective way, we will discuss the challenges of researching and developing a novel genetic engineering therapy for monogenic blood and immune system disorders.
许多基因编辑技术已被开发和测试,然而,其中大多数是针对转化细胞系进行优化的,这些细胞系在转染能力、细胞死亡倾向、分化能力以及基因编辑工具对染色质的可及性方面与其原代细胞对应物有所不同。研究人员正在努力克服与原代细胞基因编辑相关的挑战,即在改进基因编辑工具组件层面,例如使用修饰的单向导RNA,在这些细胞的核糖核蛋白中更有效地递送Cas9和RNA。尽管做出了这些努力,但在真正的原代细胞中进行正确基因编辑的效率低下仍是一个需要克服的障碍,以便产生足够数量的经校正细胞用于治疗。此外,许多用于基因编辑的治疗候选基因在更成熟的血细胞谱系中表达,但在造血干细胞(HSCs)中不表达,在造血干细胞中它们紧密包裹在异染色质中,使得基因编辑酶难以接近。使造血干细胞增殖有时被视为克服染色质难以接近问题的一种解决方案,但造血干细胞增殖的诱导通常与干性丧失有关。已记录的脱靶效应的发生情况,以及重要的是,靶上副作用也引发了重要的安全问题。总之,在用于基因校正目的的造血干细胞基因编辑能够临床应用之前,仍有许多障碍有待克服。在本综述中,我们将从一个视角讨论针对单基因血液和免疫系统疾病研发新型基因工程疗法的挑战。