Department of Biology and Biotechnologies "C. Darwin", Sapienza University of Rome, 00185 Rome, Italy.
Department of Molecular Medicine, Sapienza University of Rome, 00161 Rome, Italy.
Int J Mol Sci. 2023 Sep 16;24(18):14182. doi: 10.3390/ijms241814182.
Myotonic dystrophy 2 (DM2) is a genetic multi-systemic disease primarily affecting skeletal muscle. It is caused by CCTGn expansion in intron 1 of the gene, which encodes a zinc finger protein. DM2 disease has been successfully modeled in allowing the identification and validation of new pathogenic mechanisms and potential therapeutic strategies. Here, we describe the principal tools used in to study and dissect molecular pathways related to muscular dystrophies and summarize the main findings in DM2 pathogenesis based on DM2 models. We also illustrate how may be successfully used to generate a tractable animal model to identify novel genes able to affect and/or modify the pathogenic pathway and to discover new potential drugs.
强直性肌营养不良 2 型（DM2）是一种主要影响骨骼肌的遗传多系统疾病。它是由 基因第 1 内含子中 CCTGn 扩展引起的，该基因编码一个锌指蛋白。已经在 中成功地对 DM2 进行了建模，这使得新的致病机制和潜在的治疗策略的鉴定和验证成为可能。在这里，我们描述了在 中用于研究和剖析与肌肉疾病相关的分子途径的主要工具，并根据 DM2 模型总结了 DM2 发病机制的主要发现。我们还说明了如何成功地使用 来生成一种易于处理的动物模型，以鉴定能够影响和/或修饰致病途径的新基因，并发现新的潜在药物。
