A Comprehensive Analysis of the Role of hnRNP A1 Function and Dysfunction in the Pathogenesis of Neurodegenerative Disease.
A Comprehensive Analysis of the Role of hnRNP A1 Function and Dysfunction in the Pathogenesis of Neurodegenerative Disease.
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DOI：
10.3389/fmolb.2021.659610
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发表时间：
2021
影响因子：
5
通讯作者：
Levin MC
中科院分区：
文献类型：
--
作者：
Clarke JP;Thibault PA;Salapa HE;Levin MC
异质核核糖核蛋白A1（hnRNP A1）是hnRNP家族的一员，参与RNA转录、前mRNA剪接、mRNA转运、蛋白翻译、microRNA加工、端粒维持和转录因子活性调节。HnRNP A1在许多细胞类型中普遍但差异地表达，并且由于翻译后修饰，其分子功能可以变化。虽然关于hnRNPA 1在除神经变性疾病以外的疾病中的功能和功能障碍（例如，癌症），在肌萎缩侧索硬化、额颞叶变性、多发性硬化、脊髓性肌萎缩、阿尔茨海默病和亨廷顿病中的许多研究已经发现hnRNP A1的失调可能有助于疾病发病机制。hnRNP A1如何在机制上导致这些疾病，以及突变和/或改变的翻译后修饰是否有助于发病机制，然而，目前正在调查中。本文首先对hnRNPA 1的结构、在RNA代谢中的生物学功能以及已知的修饰其功能的翻译后修饰进行了综述。有了这些知识，审查，然后描述了hnRNP A1在神经退行性疾病的影响，以及如何其功能障碍可能有助于发病机制。
Heterogeneous nuclear ribonucleoprotein A1 (hnRNP A1) is a member of the hnRNP family of conserved proteins that is involved in RNA transcription, pre-mRNA splicing, mRNA transport, protein translation, microRNA processing, telomere maintenance and the regulation of transcription factor activity. HnRNP A1 is ubiquitously, yet differentially, expressed in many cell types, and due to post-translational modifications, can vary in its molecular function. While a plethora of knowledge is known about the function and dysfunction of hnRNP A1 in diseases other than neurodegenerative disease (e.g., cancer), numerous studies in amyotrophic lateral sclerosis, frontotemporal lobar degeneration, multiple sclerosis, spinal muscular atrophy, Alzheimer’s disease, and Huntington’s disease have found that the dysregulation of hnRNP A1 may contribute to disease pathogenesis. How hnRNP A1 mechanistically contributes to these diseases, and whether mutations and/or altered post-translational modifications contribute to pathogenesis, however, is currently under investigation. The aim of this comprehensive review is to first describe the background of hnRNP A1, including its structure, biological functions in RNA metabolism and the post-translational modifications known to modify its function. With this knowledge, the review then describes the influence of hnRNP A1 in neurodegenerative disease, and how its dysfunction may contribute the pathogenesis.
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