核糖体质量控制因子抑制来自GC丰富重复的重复关联非AUG转化
Yi-Ju Tseng1, Indranil Malik2, Xiexiong Deng3
1Cellular and Molecular Biology Graduate Program, University of Michigan, Ann Arbor, MI, 48109, USA.
bioRxiv : the preprint server for biology
|June 19, 2023
概括
与核糖体相关的质量控制 (RQC) 因素可以防止ALS和FXTAS等重复扩张障碍中产生有毒蛋白质. 提高RQC活动可能为这些神经退行性疾病提供治疗策略.
科学领域:
- 神经科学是一个神经科学.
- 分子生物学分子生物学
- 遗传学 遗传学 是一个
背景情况:
- 在*C9ORF72*和*FMR1*基因中,富含GC的重复扩张会导致神经退行性疾病,包括肌缩性侧面硬化症/前性痴呆症 (C9ALS/FTD) 和脆弱X关联/缺氧综合征 (FXTAS).
- 这些重复形成RNA二次结构,驱动重复关联的非AUG (RAN) 翻译,产生涉及疾病发病的有毒蛋白质.
结论:
- 在RAN转化延长过程中,核糖体停滞和随后的RQC通路激活作为一种保护机制,防止产生有毒的RAN产物.
- 增加RQC活动为管理由GC丰富的重复扩张障碍引起的神经退行性疾病提供了潜在的治疗策略.
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