常染色体显性遗传视网膜色素变性相关基因 PRPF8 通过调控 ULK1 mRNA 剪接对于缺氧诱导的线粒体自噬是必需的。

Autosomal dominant retinitis pigmentosa-associated gene PRPF8 is essential for hypoxia-induced mitophagy through regulating ULK1 mRNA splicing.

机构信息

a State Key Laboratory of Proteomics, Institute of Basic Medical Sciences , National Center of Biomedical Analysis , Beijing , China.

b State Key Laboratory of Proteomics, Beijing Proteome Research Center , Beijing Institute of Lifeomics , Beijing , China.

出版信息

Autophagy. 2018;14(10):1818-1830. doi: 10.1080/15548627.2018.1501251. Epub 2018 Aug 13.

Abstract

Aged and damaged mitochondria can be selectively degraded by specific autophagic elimination, termed mitophagy. Defects in mitophagy have been increasingly linked to several diseases including neurodegenerative diseases, metabolic diseases and other aging-related diseases. However, the molecular mechanisms of mitophagy are not fully understood. Here, we identify PRPF8 (pre-mRNA processing factor 8), a core component of the spliceosome, as an essential mediator in hypoxia-induced mitophagy from an RNAi screen based on a fluorescent mitophagy reporter, mt-Keima. Knockdown of PRPF8 significantly impairs mitophagosome formation and subsequent mitochondrial clearance through the aberrant mRNA splicing of ULK1, which mediates macroautophagy/autophagy initiation. Importantly, autosomal dominant retinitis pigmentosa (adRP)-associated PRPF8 mutant R2310K is defective in regulating mitophagy. Moreover, knockdown of other adRP-associated splicing factors, including PRPF6, PRPF31 and SNRNP200, also lead to ULK1 mRNA mis-splicing and mitophagy defects. Thus, these findings demonstrate that PRPF8 is essential for mitophagy and suggest that dysregulation of spliceosome-mediated mitophagy may contribute to pathogenesis of retinitis pigmentosa.

摘要

衰老和受损的线粒体可以通过特定的自噬消除来选择性降解,这种自噬消除被称为线粒体自噬。线粒体自噬的缺陷与多种疾病有关,包括神经退行性疾病、代谢性疾病和其他与衰老相关的疾病。然而,线粒体自噬的分子机制尚未完全阐明。在这里,我们通过基于荧光线粒体自噬报告物 mt-Keima 的 RNAi 筛选,确定 PRPF8(前体 mRNA 处理因子 8)作为缺氧诱导的线粒体自噬中的必需介质,PRPF8 是剪接体的核心组成部分。PRPF8 的敲低显着通过 ULK1 的异常 mRNA 剪接损害噬线粒体形成和随后的线粒体清除,ULK1 介导巨自噬/自噬起始。重要的是,常染色体显性遗传视网膜色素变性(adRP)相关的 PRPF8 突变体 R2310K 不能调节线粒体自噬。此外,其他 adRP 相关剪接因子,包括 PRPF6、PRPF31 和 SNRNP200 的敲低也导致 ULK1 mRNA 错剪接和线粒体自噬缺陷。因此,这些发现表明 PRPF8 对于线粒体自噬是必需的,并表明剪接体介导的线粒体自噬的失调可能导致视网膜色素变性的发病机制。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索