Neurological and neuromuscular diseases resulting from familial, sporadic, or de novo mutations have devasting personal, familial, and societal impacts. As the initial product of DNA transcription, RNA transcripts and their associated ribonucleoprotein complexes provide attractive targets for modulation by increasing wild-type or blocking mutant allele expression, thus relieving downstream pathological consequences. Therefore, it is unsurprising that many existing and under-development therapeutics have focused on targeting disease-associated RNA transcripts as a frontline drug strategy for these genetic disorders. This review focuses on the current range of RNA targeting modalities using examples of both dominant and recessive neurological and neuromuscular diseases.

中文翻译：

---

RNA 治疗神经和神经肌肉疾病的靶向治疗


由家族性、散发性或从头突变引起的神经和神经肌肉疾病具有毁灭性的个人、家庭和社会影响。作为 DNA 转录的初始产物，RNA 转录物及其相关核糖核蛋白复合物通过增加野生型或阻断突变等位基因表达，为调节提供有吸引力的靶标，从而减轻下游病理后果。因此，毫不奇怪的是，许多现有和正在开发的治疗方法都专注于靶向疾病相关的 RNA 转录本，作为这些遗传性疾病的一线药物策略。本综述以显性和隐性神经和神经肌肉疾病为例，重点介绍当前的 RNA 靶向模式范围。