神经遗传疾病的基因治疗。

IF 12.8 1区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Orrin Devinsky, Jeff Coller, Rebecca Ahrens-Nicklas, X Shawn Liu, Nadav Ahituv, Beverly L Davidson, Kathie M Bishop, Yael Weiss, Ana Mingorance
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引用次数: 0

摘要

超过1700种基因的致病变异可导致神经遗传疾病。单基因疾病是基因治疗的理想靶点;然而,血脑屏障(BBB)、有丝分裂后神经元和低效的传递平台使得神经遗传疾病的基因治疗具有挑战性。nusinersen于2016年获得批准后,神经遗传疾病的基因疗法发展迅速,新的递送载体(如血脑屏障穿越衣壳、工程病毒样蛋白、脂质纳米颗粒(LNPs))和新的治疗策略(如调控元件、新型RNA疗法、tRNA疗法、表观遗传和基因编辑)得到了发展。患者主导的疾病基金会通过解决试验准备和支持转化研究加速了治疗的发展。我们回顾了神经遗传疾病基因治疗的现状和未来发展方向。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Gene therapies for neurogenetic disorders.

Pathogenic variants in over 1700 genes can cause neurogenetic disorders. Monogenetic diseases are ideal targets for genetic therapies; however, the blood-brain barrier (BBB), post-mitotic neurons, and inefficient delivery platforms make gene therapies for neurogenetic diseases challenging. Following nusinersen's 2016 approval, the development of gene therapies for neurogenetic disorders has advanced rapidly, with new delivery vehicles [e.g., BBB-crossing capsids, engineered viral-like proteins, lipid nanoparticles (LNPs)] and novel therapeutic strategies (e.g., regulatory elements, novel RNA therapeutics, tRNA therapies, epigenetic and gene editing). Patient-led disease foundations have accelerated treatment development by addressing trial readiness and supporting translational research. We review the current landscape and future directions in developing gene therapies for neurogenetic disorders.

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来源期刊
Trends in molecular medicine
Trends in molecular medicine 医学-生化与分子生物学
CiteScore
24.60
自引率
0.00%
发文量
142
审稿时长
6-12 weeks
期刊介绍: Trends in Molecular Medicine (TMM) aims to offer concise and contextualized perspectives on the latest research advancing biomedical science toward better diagnosis, treatment, and prevention of human diseases. It focuses on research at the intersection of basic biology and clinical research, covering new concepts in human biology and pathology with clear implications for diagnostics and therapy. TMM reviews bridge the gap between bench and bedside, discussing research from preclinical studies to patient-enrolled trials. The major themes include disease mechanisms, tools and technologies, diagnostics, and therapeutics, with a preference for articles relevant to multiple themes. TMM serves as a platform for discussion, pushing traditional boundaries and fostering collaboration between scientists and clinicians. The journal seeks to publish provocative and authoritative articles that are also accessible to a broad audience, inspiring new directions in molecular medicine to enhance human health.
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