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基因组编辑:遗传性视网膜疾病的突破性技术?

Genome editing: the breakthrough technology for inherited retinal disease?

作者信息

Smith Andrew J, Carter Stephen P, Kennedy Breandán N

机构信息

a UCD School of Biomolecular and Biomedical Science, UCD Conway Institute , University College Dublin , Belfield , Ireland.

出版信息

Expert Opin Biol Ther. 2017 Oct;17(10):1245-1254. doi: 10.1080/14712598.2017.1347629. Epub 2017 Jul 11.

Abstract

Genetic alterations resulting in a dysfunctional retinal pigment epithelium and/or degenerating photoreceptors cause impaired vision. These juxtaposed cells in the retina of the posterior eye are crucial for the visual cycle or phototransduction. Deficits in these biochemical processes perturb neural processing of images capturing the external environment. Notably, there is a distinct lack of clinically approved pharmacological, cell- or gene-based therapies for inherited retinal disease. Gene editing technologies are rapidly advancing as a realistic therapeutic option. Areas covered: Recent discovery of endonuclease-mediated gene editing technologies has culminated in a surge of investigations into their therapeutic potential. In this review, the authors discuss gene editing technologies and their applicability in treating inherited retinal diseases, the limitations of the technology and the research obstacles to overcome before editing a patient's genome becomes a viable treatment option. Expert opinion: The ability to strategically edit a patient's genome constitutes a treatment revolution. However, concerns remain over the safety and efficacy of either transplanting iPSC-derived retinal cells following ex vivo gene editing, or with direct gene editing in vivo. Ultimately, further refinements to improve efficacy and safety profiles are paramount for gene editing to emerge as a widely available treatment option.

摘要

导致视网膜色素上皮功能失调和/或光感受器退化的基因改变会损害视力。后眼视网膜中这些相邻的细胞对于视觉循环或光转导至关重要。这些生化过程中的缺陷会扰乱捕捉外部环境的图像的神经处理。值得注意的是,目前对于遗传性视网膜疾病,明显缺乏经临床批准的基于药理学、细胞或基因的疗法。基因编辑技术作为一种切实可行的治疗选择正在迅速发展。涵盖领域:最近核酸内切酶介导的基因编辑技术的发现,引发了对其治疗潜力的大量研究。在这篇综述中,作者讨论了基因编辑技术及其在治疗遗传性视网膜疾病中的适用性、该技术的局限性以及在将编辑患者基因组变为可行的治疗选择之前需要克服的研究障碍。专家观点:有策略地编辑患者基因组的能力构成了一场治疗革命。然而,对于在体外基因编辑后移植诱导多能干细胞衍生的视网膜细胞或体内直接基因编辑的安全性和有效性仍存在担忧。最终,进一步改进以提高疗效和安全性对于基因编辑成为广泛可用的治疗选择至关重要。

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