Dysregulated AEBP1 and COLEC12 Genes in Late-Onset Alzheimer’s Disease: Insights from Brain Cortex and Peripheral Blood Analysis

IF 2.8 4区 医学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY Journal of Molecular Neuroscience Pub Date : 2024-04-03 DOI:10.1007/s12031-024-02212-8
Mohamadreza Asadie, Ali Miri, Taleb Badri, Javad Hosseini Nejad, Javad Gharechahi
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Abstract

Alzheimer’s disease (AD) is a progressive neurodegenerative disorder characterized by memory and cognitive impairment, often accompanied by alterations in mood, confusion, and, ultimately, a state of acute mental disturbance. The cerebral cortex is considered a promising area for investigating the underlying causes of AD by analyzing transcriptional patterns, which could be complemented by investigating blood samples obtained from patients. We analyzed the RNA expression profiles of three distinct areas of the brain cortex, including the frontal cortex (FC), temporal cortex (TC), and entorhinal cortex (EC) in patients with AD. Functional enrichment analysis was performed on the differentially expressed genes (DEGs) across the three regions. The two genes with the most significant expression changes in the EC region were selected for assessing mRNA expression levels in the peripheral blood of late-onset AD patients using quantitative PCR (qPCR). We identified eight shared DEGs in these regions, including AEBP1 and COLEC12, which exhibited prominent changes in expression. Functional enrichment analysis uncovered a significant association of these DEGs with the transforming growth factor-β (TGF-β) signaling pathway and processes related to angiogenesis. Importantly, we established a robust connection between the up-regulation of AEBP1 and COLEC12 in both the brain and peripheral blood. Furthermore, we have demonstrated the potential of AEBP1 and COLEC12 genes as effective diagnostic tools for distinguishing between late-onset AD patients and healthy controls. This study unveils the intricate interplay between AEBP1 and COLEC12 in AD and underscores their potential as markers for disease detection and monitoring.

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晚发性阿尔茨海默病中的 AEBP1 和 COLEC12 基因失调:脑皮层和外周血分析的启示
摘要 阿尔茨海默病(Alzheimer's disease,AD)是一种进行性神经退行性疾病,以记忆和认知功能障碍为特征,常伴有情绪改变、意识模糊,最终导致急性精神障碍。大脑皮层被认为是通过分析转录模式研究AD潜在病因的一个前景广阔的区域,而对患者血液样本的研究可以对这一研究起到补充作用。我们分析了AD患者大脑皮层三个不同区域的RNA表达谱,包括额叶皮层(FC)、颞叶皮层(TC)和内侧皮层(EC)。对这三个区域的差异表达基因(DEG)进行了功能富集分析。我们选择了在EC区域表达变化最显著的两个基因,利用定量PCR(qPCR)技术评估了晚发性AD患者外周血中的mRNA表达水平。我们在这些区域中发现了八个共有的 DEGs,其中包括 AEBP1 和 COLEC12,它们的表达都发生了显著变化。功能富集分析发现,这些 DEGs 与转化生长因子-β(TGF-β)信号通路和血管生成相关过程有显著关联。重要的是,我们建立了大脑和外周血中 AEBP1 和 COLEC12 上调之间的紧密联系。此外,我们还证明了 AEBP1 和 COLEC12 基因作为有效诊断工具的潜力,可用于区分晚发性 AD 患者和健康对照组。这项研究揭示了 AD 中 AEBP1 和 COLEC12 之间错综复杂的相互作用,并强调了它们作为疾病检测和监测标志物的潜力。
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来源期刊
Journal of Molecular Neuroscience
Journal of Molecular Neuroscience 医学-神经科学
CiteScore
6.60
自引率
3.20%
发文量
142
审稿时长
1 months
期刊介绍: The Journal of Molecular Neuroscience is committed to the rapid publication of original findings that increase our understanding of the molecular structure, function, and development of the nervous system. The criteria for acceptance of manuscripts will be scientific excellence, originality, and relevance to the field of molecular neuroscience. Manuscripts with clinical relevance are especially encouraged since the journal seeks to provide a means for accelerating the progression of basic research findings toward clinical utilization. All experiments described in the Journal of Molecular Neuroscience that involve the use of animal or human subjects must have been approved by the appropriate institutional review committee and conform to accepted ethical standards.
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