RyR1相关肌病的基因治疗

IF 4 3区医学 Q1 PHARMACOLOGY & PHARMACY

Current Opinion in Pharmacology Pub Date : 2023-02-01 DOI:10.1016/j.coph.2022.102330

Isabelle Marty, Mathilde Beaufils, Julien Fauré, John Rendu

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引用次数: 0

摘要

与RYR1基因变异相关的肌病是治疗选择很少的遗传性疾病，部分原因是基因和蛋白质的大小非常大，以及变异在整个序列中的分布。利用基因治疗领域的进展，可以在mRNA水平或直接在DNA水平上对不同的遗传变异应用不同的方法，特别是使用新的基因编辑工具。其中一些已经在赛璐珞和/或体内进行了测试，为了开发最具创新性的基因编辑技术，可以在其他遗传疾病中寻求灵感。

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Gene therapies for RyR1-related myopathies

Myopathies related to variations in the RYR1 gene are genetic diseases for which the therapeutic options are sparse, in part because of the very large size of the gene and protein, and of the distribution of variations all along the sequence. Taking advantage of the progress made in the gene therapy field, different approaches can be applied to the different genetic variations, either at the mRNA level or directly at the DNA level, specifically with the new gene editing tools. Some of those have already been tested in cellulo and/or in vivo, and for the development of the most innovative gene editing technology, inspiration can be sought in other genetic diseases.

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来源期刊

Current Opinion in Pharmacology 医学-药学

CiteScore

8.80

自引率

2.50%

发文量

131

审稿时长

4-8 weeks

期刊介绍： Current Opinion in Pharmacology (COPHAR) publishes authoritative, comprehensive, and systematic reviews. COPHAR helps specialists keep up to date with a clear and readable synthesis on current advances in pharmacology and drug discovery. Expert authors annotate the most interesting papers from the expanding volume of information published today, saving valuable time and giving the reader insight on areas of importance.