Gagliardi Stella, Milani Pamela, Sardone Valentina, Pansarasa Orietta, Cereda Cristina
Laboratory of Experimental Neurobiology, IRCCS National Neurological Institute "C. Mondino," 27100 Pavia, Italy.
Neurol Res Int. 2012;2012:278725. doi: 10.1155/2012/278725. Epub 2012 Jun 17.
In the last years, numerous studies have focused on understanding the metabolism of RNA and its implication in disease processes but abnormal RNA metabolism is still unknown. RNA plays a central role in translating genetic information into proteins and in many other catalytic and regulatory tasks. Recent advances in the study of RNA metabolism revealed complex pathways for the generation and maintenance of functional RNA in amyotrophic lateral sclerosis (ALS). Interestingly, perturbations in RNA processing have been described in ALS at various levels such as gene transcription, mRNA stabilization, transport, and translational regulations. In this paper, we will discuss the alteration of RNA profile in ALS disease, starting from transcription, the first step leading to gene expression, through the posttranscriptional regulation, including RNA/DNA binding proteins and aberrant exon splicing to protein noncoding RNAs, as lncRNA and microRNA.
在过去几年中，众多研究聚焦于理解RNA的代谢及其在疾病进程中的作用，但异常的RNA代谢仍不为人知。RNA在将遗传信息转化为蛋白质以及许多其他催化和调节任务中起着核心作用。RNA代谢研究的最新进展揭示了肌萎缩侧索硬化症（ALS）中功能性RNA产生和维持的复杂途径。有趣的是，在ALS中已描述了RNA加工在各个层面的扰动，如基因转录、mRNA稳定、转运和翻译调控。在本文中，我们将讨论ALS疾病中RNA谱的改变，从导致基因表达的第一步转录开始，到转录后调控，包括RNA/DNA结合蛋白、异常外显子剪接以及长链非编码RNA（lncRNA）和微小RNA（miRNA）等蛋白质非编码RNA。
