利用基于微阵列的转录组分析和单细胞测序,鉴定和分析癫痫中与铁中毒相关的分子模块和免疫特征。

IF 2.4 3区 生物学 Q2 GENETICS & HEREDITY Gene Pub Date : 2025-03-20 Epub Date: 2025-01-21 DOI:10.1016/j.gene.2025.149227
Cong Huang , Fan Wei , Zhipeng You , Jiran Li , Yang Liu , Xingan Liu , Zhijie Fan , Yunmin He , Xiaoying Gao , Jiahang Sun
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引用次数: 0

摘要

目前,人们对癫痫的发病机制仍知之甚少。虽然有证据表明铁死亡可能起重要作用,但其分子免疫学机制在很大程度上尚不清楚。本研究旨在分析和探讨癫痫铁死亡相关基因的分子机制和免疫学特性。我们从GEO数据库中获得癫痫患者的血液和脑组织数据集,并从FerrDb中获得铁死亡相关基因集。通过两种机器学习算法,我们确定了三个Hub基因,分别是RELA、TFRC和QSOX1。无监督聚类揭示了两个不同的聚类。免疫浸润分析表明,其中一个簇的免疫浸润明显较高。建立癫痫诊断模型和心电图图。RT-qPCR和Western Blot验证结果。单细胞分析显示SPP1信号通路在星形胶质细胞和小胶质细胞中过度激活。本研究为癫痫的诊断提供了新的视角和理论基础。
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Identify and analyze ferroptosis-related molecular modules and immune signatures in epilepsy using microarray-based transcriptome profiling and single-cell sequencing
Currently, the pathogenesis of epilepsy remains poorly understood. Although there is evidence indicating that iron death might play a significant role, its molecular immunological mechanisms are largely unknown. This study was designed to analyze and explore the molecular mechanisms and immunological characteristics of iron death-related genes in epilepsy. We obtained datasets of blood and brain tissues for epilepsy from the GEO database and the set of iron death-related genes from FerrDb. Through two machine learning algorithms, we identified three Hub genes, namely RELA, TFRC, and QSOX1. Unsupervised clustering revealed two distinct clusters. Immune infiltration analysis demonstrated that one cluster had significantly higher immune infiltration. We established an epilepsy diagnostic model and nomogram. The results were confirmed by RT-qPCR and Western Blot. Single-cell analysis showed that the SPP1 signalling pathway was overly activated in astrocytes and microglia. This study offers new perspectives and a theoretical foundation for the diagnosis of epilepsy.
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来源期刊
Gene
Gene 生物-遗传学
CiteScore
6.10
自引率
2.90%
发文量
718
审稿时长
42 days
期刊介绍: Gene publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses.
期刊最新文献
Elucidating microbial-induced cold tolerance gene expression pathways in Arabidopsis thaliana by SA-producing bacterium Sphingomonas paucimobilis Identification of a reliable reference microRNA for MSCs and sEV across varied preconditioning strategies Assessing the potential of Bari1 transposon arrays to induce ectopic heterochromatin in Drosophila melanogaster ZC3H13-mediated the m6A modification of PAX9 suppresses the progression of reflux esophagitis via improving esophageal epithelial barrier dysfunction Corrigendum to “Role of myeloid-derived suppressor cells in bladder cancer and targeted therapeutic strategies” [Gene 970 (2025) 149772]
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