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用于范可尼贫血的CRISPR-Cas9技术进展

[Advancements in CRISPR-Cas9 for Fanconi anemia].

作者信息

Gao Y M, Chang L X, Zhu X F

机构信息

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China Tianjin Institutes of Health Science, Tianjin 301600, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2025 Mar 14;46(3):276-280. doi: 10.3760/cma.j.cn121090-20240825-00321.

Abstract

Fanconi anemia (FA) is a hereditary bone marrow failure syndrome that is characterized by genomic instability and heightened sensitivity to DNA cross-linking agents. In recent years, the CRISPR-Cas9 technology has exhibited groundbreaking progress in the field of gene therapy for FA. The traditional CRISPR-Cas9 technology has been successfully applied in FA gene editing. Further, single-base editing technology, based on the CRISPR/Cas9 system, performs precise and efficient gene repair for prevalent gene mutations in patients with FA. The prime editing technology provides new possibilities for gene editing; however, its application in FA has not been initiated. Despite significant advancements in FA gene editing technology, several challenges remain, including the collection of sufficient hematopoietic stem cells, the risk of increased tumorigenesis postgene editing, chromosomal instability, and off-target effects. Future research is recommended to focus on optimizing sgRNA and Cas9 nucleases, designing stricter PAM sequences to reduce off-target effects, and devising personalized gene editing strategies. Further, ethical and regulatory issues as well as long-term follow-ups are crucial priorities for future gene editing work. With continuous technological advancements and in-depth clinical trials, we expect more breakthroughs in FA treatment using the CRISPR-Cas9 technology in the future. This article reviews the latest research progress of CRISPR technology in FA treatment and analyzes the advantages and disadvantages of this technology in FA gene therapy.

摘要

范可尼贫血(FA)是一种遗传性骨髓衰竭综合征,其特征为基因组不稳定以及对DNA交联剂高度敏感。近年来,CRISPR-Cas9技术在FA的基因治疗领域取得了突破性进展。传统的CRISPR-Cas9技术已成功应用于FA基因编辑。此外,基于CRISPR/Cas9系统的单碱基编辑技术能对FA患者中常见的基因突变进行精确高效的基因修复。碱基编辑技术为基因编辑提供了新的可能性;然而,其在FA中的应用尚未开展。尽管FA基因编辑技术取得了重大进展,但仍存在一些挑战,包括收集足够的造血干细胞、基因编辑后肿瘤发生风险增加、染色体不稳定以及脱靶效应。建议未来的研究聚焦于优化sgRNA和Cas9核酸酶、设计更严格的PAM序列以减少脱靶效应,以及制定个性化的基因编辑策略。此外,伦理和监管问题以及长期随访是未来基因编辑工作的关键优先事项。随着技术的不断进步和深入的临床试验,我们期待未来在使用CRISPR-Cas9技术治疗FA方面能有更多突破。本文综述了CRISPR技术在FA治疗中的最新研究进展,并分析了该技术在FA基因治疗中的优缺点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac42/12038472/1da4341a239d/cjh-46-03-276-g001.jpg

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