Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis,Neuropathology and Applied Neurobiology

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Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis
Neuropathology and Applied Neurobiology ( IF 4.0 ) Pub Date : 2021-07-20 , DOI: 10.1111/nan.12749
Alison L Hogan ₁ , Natalie Grima ₁ , Jennifer A Fifita ₁ , Emily P McCann ₁ , Benjamin Heng ₁ , Sandrine Chan Moi Fat ₁ , Sharlynn Wu ₁ , Ram Maharjan ₂ , Amy K Cain ₂ , Lyndal Henden ₁ , Stephanie Rayner ₁ , Ingrid Tarr ₁ , Katharine Y Zhang ₁ , Qiongyi Zhao ₃ , Zong-Hong Zhang ₄ , Amanda Wright ₁ , Albert Lee ₁ , Marco Morsch ₁ , Shu Yang ₁ , Kelly L Williams ₁ , Ian P Blair ₁

Affiliation

Splicing factor proline and glutamine rich (SFPQ) is an RNA–DNA binding protein that is dysregulated in Alzheimer's disease and frontotemporal dementia. Dysregulation of SFPQ, specifically increased intron retention and nuclear depletion, has been linked to several genetic subtypes of amyotrophic lateral sclerosis (ALS), suggesting that SFPQ pathology may be a common feature of this heterogeneous disease. Our study aimed to investigate this hypothesis by providing the first comprehensive assessment of SFPQ pathology in large ALS case–control cohorts.

中文翻译：

剪接因子脯氨酸和富含谷氨酰胺的内含子保留、表达减少和聚集体形成是肌萎缩侧索硬化症的病理特征

富含剪接因子脯氨酸和谷氨酰胺 (SFPQ) 是一种 RNA-DNA 结合蛋白，在阿尔茨海默病和额颞叶痴呆中失调。SFPQ 的失调，特别是内含子保留和核耗竭增加，与肌萎缩侧索硬化症 (ALS) 的几种遗传亚型有关，这表明 SFPQ 病理学可能是这种异质性疾病的共同特征。我们的研究旨在通过在大型 ALS 病例对照队列中首次全面评估 SFPQ 病理学来研究这一假设。

更新日期：2021-07-20

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