基于生物信息学的阿尔兹海默病线粒体相关Hub基因的筛选  

Screening of Mitochondrial-related Hub Genes in Alzheimer's Disease Based on Bioinformatics

作　　者：李晓松 黄霄 张亚洲 李瑞 李寅臻 王奎 LI Xiaosong;HUANG Xiao;ZHANG Yazhou;LI Rui;LI Yinzhen;WANG Kui(Department of Preventive Medicine,Shihezi University School of Medicine,Shihezi 832000,Xinjiang,China)

机构地区：[1]石河子大学医学院预防医学系,新疆石河子832000

出　　处：《医学信息》2025年第9期1-7,共7页Journal of Medical Information

摘　　要：目的利用生物信息分析方法筛选与阿尔兹海默病相关的线粒体枢纽基因,并分析其功能。方法从美国国立生物技术信息中心GEO数据库中下载阿尔兹海默病基因芯片数据集,通过差异表达分析和加权基因共表达网络分析筛选出阿尔兹海默病的枢纽基因,在MitoCarta3.0数据库中获取线粒体相关基因,与上述枢纽基因取交集,对交集基因进行富集分析,并利用String数据库构建蛋白互作网络,将结果导入Cytoscape软件,通过MCC算法筛选出Degree排名前6位的基因。结果经差异表达分析筛选出380个下调基因和279个上调基因,经加权基因共表达网络分析筛选出1073个基因,与线粒体基因取交集得到15个线粒体相关基因。GO富集分析显示其主要参与线粒体形态的改变、线粒体基因组的复制、新线粒体组分的合成和线粒体的物质转运等生物学过程。KEGG通路富集分析显示其主要富集于帕金森病、亨廷顿舞蹈症、丙酸代谢和胆固醇代谢等通路。利用Cytoscape软件最终筛选出6个与阿尔兹海默病相关的线粒体枢纽基因:VDAC1、TOMM20、CISD1、OPA1、NDUFAB1、TSPO。结论通过阿尔兹海默病基因芯片数据集并结合多种生物信息分析方法鉴定出6个线粒体枢纽基因,为线粒体功能障碍在阿尔兹海默病中的作用提供理论依据。Objective To screen mitochondrial hub genes associated with Alzheimer's disease by bioinformatics analysis and analyze their functions.Methods The Alzheimer's disease gene chip dataset was downloaded from the GEO database of the National Center for Biotechnology Information in the United States.The hub genes of Alzheimer's disease were screened through differential expression analysis and weighted gene co-expression network analysis.The mitochondrial related genes were obtained from the MitoCarta 3.0 database and intersected with the aforementioned hub genes.The intersection genes were enriched and analyzed,and a protein interaction network was constructed using the String database.The results were imported into Cytoscape software,and the top 6 genes ranked in Degree were screened using the MCC algorithm.Results A total of 380 down-regulated genes and 279 up-regulated genes were screened by differential expression analysis.A total of 1073 genes were screened by weighted gene co-expression network analysis,and 15 mitochondrial-related genes were obtained by intersection with mitochondrial genes.GO enrichment analysis showed that it was mainly involved in biological processes such as changes in mitochondrial morphology,replication of mitochondrial genome,synthesis of new mitochondrial components,and mitochondrial material transport.KEGG pathway enrichment analysis showed that it was mainly enriched in Parkinson's disease,Huntington's disease,propionic acid metabolism and cholesterol metabolism.Finally,six mitochondrial hub genes related to Alzheimer's disease were screened by Cytoscape software:VDAC1,TOMM20,CISD1,OPA1,NDUFAB1,TSPO.Conclusion Through the Alzheimer's disease gene chip data set and combined with a variety of bioinformatics analysis methods,six mitochondrial hub genes have identified,which can provide a theoretical basis for the role of mitochondrial dysfunction in Alzheimer's disease.

关 键 词：生物信息学 阿尔兹海默病 线粒体 枢纽基因 

分 类 号：R749.1[医药卫生—神经病学与精神病学]