Recent advances and current status of gene therapy for epilepsy.

IF 6.1 2区 医学 Q1 PEDIATRICS
Ao-Jie Cai, Kai Gao, Fan Zhang, Yu-Wu Jiang
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引用次数: 0

Abstract

Background: Epilepsy is a common neurological disorder with complex pathogenic mechanisms, and refractory epilepsy often lacks effective treatments. Gene therapy is a promising therapeutic option, with various preclinical experiments achieving positive results, some of which have progressed to clinical studies.

Data sources: This narrative review was conducted by searching for papers published in PubMed/MEDLINE with the following single and/or combination keywords: epilepsy, children, neurodevelopmental disorders, genetics, gene therapy, vectors, transgenes, receptors, ion channels, micro RNAs (miRNAs), clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas)9 (CRISPR/Cas9), expression regulation, optogenetics, chemical genetics, mitochondrial epilepsy, challenges, ethics, and disease models.

Results: Currently, gene therapy research in epilepsy primarily focuses on symptoms attenuation mediated by viral vectors such as adeno-associated virus and other types. Advances in gene therapy technologies, such as CRISPR/Cas9, have provided a new direction for epilepsy treatment. However, the clinical application still faces several challenges, including issues related to vectors, models, expression controllability, and ethical considerations.

Conclusions: Here, we summarize the relevant research and clinical advances in gene therapy for epilepsy and outline the challenges facing its clinical application. In addition to the shortcomings inherent in gene therapy components, the reconfiguration of excitatory and inhibitory properties in epilepsy treatment is a delicate process. On-demand, cell-autonomous treatments and multidisciplinary collaborations may be crucial in addressing these issues. Understanding gene therapy for epilepsy will help clinicians gain a clearer perception of the research progress and challenges, guiding the design of future clinical protocols and research decisions.

癫痫基因治疗的最新进展和现状。
背景:癫痫是一种常见的神经系统疾病,发病机制复杂,难治性癫痫往往缺乏有效的治疗方法。基因疗法是一种很有前景的治疗方法,各种临床前实验都取得了积极的成果,其中一些已进入临床研究阶段:本叙事性综述通过检索 PubMed/MEDLINE 上发表的论文,并使用以下单个和/或组合关键词:癫痫、儿童、神经发育障碍、遗传学、基因疗法、载体、转基因、受体、离子通道、微 RNA (miRNA)、簇状规则间隔短回文重复序列 (CRISPR)/CRISPR 相关蛋白 (Cas)9 (CRISPR/Cas9)、表达调控、光遗传学、化学遗传学、线粒体癫痫、挑战、伦理和疾病模型。结果:目前,癫痫的基因治疗研究主要集中在腺相关病毒等病毒载体介导的症状减弱方面。CRISPR/Cas9等基因治疗技术的进步为癫痫治疗提供了新的方向。然而,临床应用仍面临一些挑战,包括与载体、模型、表达可控性和伦理考虑相关的问题:在此,我们总结了癫痫基因治疗的相关研究和临床进展,并概述了其临床应用所面临的挑战。除了基因治疗成分固有的缺陷外,癫痫治疗中兴奋和抑制特性的重新配置也是一个微妙的过程。按需治疗、细胞自主治疗和多学科合作可能是解决这些问题的关键。了解癫痫的基因疗法将有助于临床医生更清楚地了解研究进展和挑战,从而指导未来临床方案的设计和研究决策。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
World Journal of Pediatrics
World Journal of Pediatrics 医学-小儿科
CiteScore
10.50
自引率
1.10%
发文量
592
审稿时长
2.5 months
期刊介绍: The World Journal of Pediatrics, a monthly publication, is dedicated to disseminating peer-reviewed original papers, reviews, and special reports focusing on clinical practice and research in pediatrics. We welcome contributions from pediatricians worldwide on new developments across all areas of pediatrics, including pediatric surgery, preventive healthcare, pharmacology, stomatology, and biomedicine. The journal also covers basic sciences and experimental work, serving as a comprehensive academic platform for the international exchange of medical findings.
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