隐秘内含物揭示导致神经退行性变的丧失。

Cryptic inclusions UNCover losses driving neurodegeneration.

机构信息

Neurodegeneration Pathobiology Laboratory, Queensland Brain Institute, The University of Queensland, St Lucia, QLD, 4072, Australia.

出版信息

Trends Genet. 2022 Sep;38(9):889-891. doi: 10.1016/j.tig.2022.06.004. Epub 2022 Jun 27.

DOI:10.1016/j.tig.2022.06.004

PMID:35773026

Abstract

Pathology formed by the protein TDP-43 (TAR DNA binding protein 43) is the hallmark of several neurodegenerative diseases. Recent studies by Ma et al. and Brown et al. reveal that loss of TDP-43 function causes inclusion of cryptic exons in specific mRNAs, including the synaptic gene UNC13A, a known genetic risk factor for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). These findings suggest new disease mechanisms.

摘要

由 TDP-43（TAR DNA 结合蛋白 43）蛋白形成的病理学是几种神经退行性疾病的标志。最近 Ma 等人和 Brown 等人的研究表明，TDP-43 功能的丧失导致特定 mRNA 中的隐匿外显子的包含，包括突触基因 UNC13A，这是肌萎缩侧索硬化症（ALS）和额颞叶痴呆（FTD）的已知遗传风险因素。这些发现提示了新的疾病机制。