Univ. Grenoble Alpes, INSERM, Grenoble Institut Neurosciences, U1216, CHU Grenoble Alpes, Grenoble, France.
Univ. Grenoble Alpes, INSERM, Grenoble Institut Neurosciences, U1216, CHU Grenoble Alpes, Grenoble, France.
Curr Opin Pharmacol. 2023 Feb;68:102330. doi: 10.1016/j.coph.2022.102330. Epub 2022 Dec 16.
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.
与 RYR1 基因突变相关的肌病是遗传疾病，其治疗选择有限，部分原因是该基因和蛋白质的体积非常大，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 水平上针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。其中一些已经在细胞内和/或体内进行了测试，为了开发最具创新性的基因编辑技术，可以从其他遗传疾病中汲取灵感。
