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RNA剪接和翻译过程的早期失调是从轻度认知障碍到阿尔茨海默病的关键标志物:一项计算机转录组学分析

Early Dysregulation of RNA Splicing and Translation Processes Are Key Markers from Mild Cognitive Impairment to Alzheimer's Disease: An In Silico Transcriptomic Analysis.

作者信息

D'Angiolini Simone, Gugliandolo Agnese, Calì Gabriella, Chiricosta Luigi

机构信息

IRCCS Centro Neurolesi "Bonino-Pulejo", Contrada Casazza, Via Provinciale Palermo, 98124 Messina, Italy.

出版信息

Int J Mol Sci. 2025 Jul 28;26(15):7303. doi: 10.3390/ijms26157303.

DOI:10.3390/ijms26157303
PMID:40806433
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12347487/
Abstract

About one billion people worldwide are affected by neurologic disorders. Among the various neurologic disorders, one of the most common is Alzheimer's disease (AD). AD is a neurodegenerative disorder that progressively affects cognitive functions, disrupting the daily lives of millions of individuals. Mild cognitive impairment (MCI) is often considered a prodromal stage of Alzheimer's disease. In this article, we retrieved data from the online available dataset GSE63060, which includes transcriptomic data of 329 blood samples, of which there are 104 cognitively normal controls, 80 MCI patients, and 145 AD patients. We used transcriptomic data related to all three groups to perform an over-representation analysis of the gene ontologies followed by a network analysis. The aim of our study is to pinpoint alterations, detectable through a non-invasive method, in biological processes affected in MCI that persist during AD. Our goal is to uncover transcriptomic changes that could support earlier diagnosis and the development of more effective therapeutic strategies, starting from the early stages of the disease, to slow down or mitigate its progression. Our work provides a consistent picture of the transcriptomic unbalance of many genes strongly involved in ribosomal formation and biogenesis and splicing processes both in patients with MCI and with AD.

摘要

全球约有10亿人受到神经系统疾病的影响。在各种神经系统疾病中,最常见的一种是阿尔茨海默病(AD)。AD是一种神经退行性疾病,会逐渐影响认知功能,扰乱数百万患者的日常生活。轻度认知障碍(MCI)通常被认为是阿尔茨海默病的前驱阶段。在本文中,我们从在线可用数据集GSE63060中检索了数据,该数据集包括329份血液样本的转录组数据,其中有104名认知正常对照、80名MCI患者和145名AD患者。我们使用了与所有三组相关的转录组数据来进行基因本体的过度表达分析,随后进行网络分析。我们研究的目的是找出通过非侵入性方法可检测到的、在MCI中受影响且在AD期间持续存在的生物过程中的改变。我们的目标是发现转录组变化,以支持早期诊断并制定更有效的治疗策略,从疾病早期开始减缓或减轻其进展。我们的工作提供了一幅关于许多基因转录组失衡的连贯图景,这些基因在MCI患者和AD患者中都强烈参与核糖体形成、生物合成和剪接过程。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e788/12347487/8c6237e28aa5/ijms-26-07303-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e788/12347487/bbf96b76707c/ijms-26-07303-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e788/12347487/23e25f8e8331/ijms-26-07303-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e788/12347487/6efa71e3d905/ijms-26-07303-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e788/12347487/ffc5279cab5c/ijms-26-07303-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e788/12347487/8c6237e28aa5/ijms-26-07303-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e788/12347487/bbf96b76707c/ijms-26-07303-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e788/12347487/23e25f8e8331/ijms-26-07303-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e788/12347487/6efa71e3d905/ijms-26-07303-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e788/12347487/ffc5279cab5c/ijms-26-07303-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e788/12347487/8c6237e28aa5/ijms-26-07303-g005.jpg

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