Butti Zoe, Patten Shunmoogum A
INRS-Institut Armand-Frappier, National Institute of Scientific Research, Laval, QC, Canada.
Front Genet. 2019 Jan 22;9:712. doi: 10.3389/fgene.2018.00712. eCollection 2018.
Amyotrophic lateral sclerosis (ALS) is the most common adult-onset motor neuron disease and is characterized by the degeneration of upper and lower motor neurons. It has become increasingly clear that RNA dysregulation is a key contributor to ALS pathogenesis. The major ALS genes , and are involved in aspects of RNA metabolism processes such as mRNA transcription, alternative splicing, RNA transport, mRNA stabilization, and miRNA biogenesis. In this review, we highlight the current understanding of RNA dysregulation in ALS pathogenesis involving these major ALS genes and discuss the potential of therapeutic strategies targeting disease RNAs for treating ALS.
肌萎缩侧索硬化症（ALS）是最常见的成人发病的运动神经元疾病，其特征是上、下运动神经元变性。越来越清楚的是，RNA失调是ALS发病机制的关键因素。主要的ALS基因参与RNA代谢过程的各个方面，如mRNA转录、可变剪接、RNA转运、mRNA稳定和miRNA生物合成。在这篇综述中，我们重点介绍了目前对涉及这些主要ALS基因的ALS发病机制中RNA失调的理解，并讨论了针对疾病RNA的治疗策略治疗ALS的潜力。
