Gkazi Soragia Athina
Molecular and Cellular Immunology, University College London, Great Ormond Street Institute of Child Health, London, U.K.
Emerg Top Life Sci. 2019 May 31;3(3):327-334. doi: 10.1042/ETLS20180146.
Recent advances in the era of genetic engineering have significantly improved our ability to make precise changes in the genomes of human cells. Throughout the years, clinical trials based on gene therapies have led to the cure of diseases such as X-linked severe combined immunodeficiency (SCID-X1), adenosine deaminase deficiency (ADA-SCID) and Wiskott-Aldrich syndrome. Despite the success gene therapy has had, there is still the risk of genotoxicity due to the potential oncogenesis introduced by utilising viral vectors. Research has focused on alternative strategies like genome editing without viral vectors as a means to reduce genotoxicity introduced by the viral vectors. Although there is an extensive use of RNA-guided genome editing via the clustered regularly interspaced short palindromic repeats (CRISPR) and associated protein-9 (Cas9) technology for biomedical research, its genome-wide target specificity and its genotoxic side effects remain controversial. There have been reports of on- and off-target effects created by CRISPR-Cas9 that can include small and large indels and inversions, highlighting the potential risk of insertional mutagenesis. In the last few years, a plethora of in silico, in vitro and in vivo genome-wide assays have been introduced with the sole purpose of profiling these effects. Here, we are going to discuss the genotoxic obstacles in gene therapies and give an up-to-date overview of methodologies for quantifying CRISPR-Cas9 effects.
基因工程时代的最新进展显著提高了我们在人类细胞基因组中进行精确改变的能力。多年来,基于基因疗法的临床试验已治愈了诸如X连锁重症联合免疫缺陷症(SCID-X1)、腺苷脱氨酶缺乏症(ADA-SCID)和威斯科特-奥尔德里奇综合征等疾病。尽管基因疗法取得了成功,但由于使用病毒载体可能引发潜在的肿瘤发生,仍存在基因毒性风险。研究集中在诸如无病毒载体的基因组编辑等替代策略上,以此作为降低病毒载体引入的基因毒性的一种手段。尽管通过成簇规律间隔短回文重复序列(CRISPR)和相关蛋白9(Cas9)技术进行的RNA引导的基因组编辑在生物医学研究中得到了广泛应用,但其全基因组靶向特异性及其基因毒性副作用仍存在争议。有报道称CRISPR-Cas9会产生脱靶和靶向效应,包括小的和大的插入缺失及倒位,这突出了插入诱变的潜在风险。在过去几年中,为了剖析这些效应,已经引入了大量的计算机模拟、体外和体内全基因组分析方法。在此,我们将讨论基因疗法中的基因毒性障碍,并对量化CRISPR-Cas9效应的方法进行最新概述。