Department of Molecular Genetics and Microbiology, Center for NeuroGenetics, the Genetics Institute, University of Florida, Gainesville, Florida 32610, USA.
Department of Molecular Genetics and Microbiology, Center for NeuroGenetics, the Genetics Institute, University of Florida, Gainesville, Florida 32610, USA
Genes Dev. 2024 Sep 19;38(15-16):698-717. doi: 10.1101/gad.351612.124.
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.
由于家族性、散发性或新生突变而导致的神经和神经肌肉疾病，对个人、家庭和社会都有毁灭性的影响。作为 DNA 转录的初始产物，RNA 转录本及其相关的核糖核蛋白复合物为通过增加野生型或阻断突变等位基因表达来调节提供了有吸引力的靶点，从而减轻下游病理后果。因此，许多现有的和正在开发的治疗方法都集中在靶向与疾病相关的 RNA 转录本上，作为这些遗传疾病的一线药物策略，这并不奇怪。本综述重点介绍了目前使用显性和隐性神经和神经肌肉疾病的例子来靶向 RNA 的各种方法。
