{"title":"The Biomarkers and Underlying Mechanisms of Mitochondrial and PCD Related Genes in Epilepsy by Combining Transcriptome and Single-Cell Sequencing.","authors":"Wang Xiaoqiang, Wang Ren, Zhang Jianglong","doi":"10.3340/jkns.2024.0230","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>Reactive oxygen species generated by mitochondria contribute to the induction of programmed cell death (PCD), but their involvement in epilepsy remains uncertain. The present study investigates the biomarkers and underlying mechanisms of mitochondria-related genes (MRGs) and PCD-related genes (PCDRGs) in epilepsy.</p><p><strong>Methods: </strong>The MRGs and PCDRGs were respectively intersected with differentially expressed genes (DEGs) in epilepsy and control samples within the GSE134697.Afterwards, Spearman correlation analysis was implemented to select candidate genes. Thereafter, candidate biomarkers were identified through intersection of eight algorithm results in cytoHubba plugin. The receiver operating characteristic (ROC) curve analysis and expression validation in GSE134697 and GSE168375 were implemented to select biomarkers. Moreover, functional analysis, drug prediction and molecular docking were carried out to explore the mechanism of biomarkers in epilepsy, as well as single cell RNA sequencing analysis. Finally, the expression of biomarkers in clinical sample was validated by RT-qPCR.</p><p><strong>Results: </strong>LTBR and IRF1 were down-regulated in epilepsy samples in both GSE134697 and GSE168375 datasets, Therefore, they were identified as biomarkers for epilepsy related to PCD and mitochondria. IRF1 formed a hydrogen bond interaction with the RECOMBINANT CYTOKINE,indicating RECOMBINANT CYTOKINE was an effective drug target, while LTBR was not a suitable drug target. The macrophage was observed to engage in more frequent and intensive interactions with other cells. RT-qPCR showed that both biomarkers also low expression in epilepsy clinical samples.</p><p><strong>Conclusion: </strong>LTBR, IRF1 were identified as biomarkers associated with mitochondria and PCD in epilepsy, providing novel perspectives on the management of this condition.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.7000,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Korean Neurosurgical Society","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3340/jkns.2024.0230","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Objectives: Reactive oxygen species generated by mitochondria contribute to the induction of programmed cell death (PCD), but their involvement in epilepsy remains uncertain. The present study investigates the biomarkers and underlying mechanisms of mitochondria-related genes (MRGs) and PCD-related genes (PCDRGs) in epilepsy.
Methods: The MRGs and PCDRGs were respectively intersected with differentially expressed genes (DEGs) in epilepsy and control samples within the GSE134697.Afterwards, Spearman correlation analysis was implemented to select candidate genes. Thereafter, candidate biomarkers were identified through intersection of eight algorithm results in cytoHubba plugin. The receiver operating characteristic (ROC) curve analysis and expression validation in GSE134697 and GSE168375 were implemented to select biomarkers. Moreover, functional analysis, drug prediction and molecular docking were carried out to explore the mechanism of biomarkers in epilepsy, as well as single cell RNA sequencing analysis. Finally, the expression of biomarkers in clinical sample was validated by RT-qPCR.
Results: LTBR and IRF1 were down-regulated in epilepsy samples in both GSE134697 and GSE168375 datasets, Therefore, they were identified as biomarkers for epilepsy related to PCD and mitochondria. IRF1 formed a hydrogen bond interaction with the RECOMBINANT CYTOKINE,indicating RECOMBINANT CYTOKINE was an effective drug target, while LTBR was not a suitable drug target. The macrophage was observed to engage in more frequent and intensive interactions with other cells. RT-qPCR showed that both biomarkers also low expression in epilepsy clinical samples.
Conclusion: LTBR, IRF1 were identified as biomarkers associated with mitochondria and PCD in epilepsy, providing novel perspectives on the management of this condition.
期刊介绍：
The Journal of Korean Neurosurgical Society (J Korean Neurosurg Soc) is the official journal of the Korean Neurosurgical Society, and published bimonthly (1st day of January, March, May, July, September, and November). It launched in October 31, 1972 with Volume 1 and Number 1. J Korean Neurosurg Soc aims to allow neurosurgeons from around the world to enrich their knowledge of patient management, education, and clinical or experimental research, and hence their professionalism. This journal publishes Laboratory Investigations, Clinical Articles, Review Articles, Case Reports, Technical Notes, and Letters to the Editor. Our field of interest involves clinical neurosurgery (cerebrovascular disease, neuro-oncology, skull base neurosurgery, spine, pediatric neurosurgery, functional neurosurgery, epilepsy, neuro-trauma, and peripheral nerve disease) and laboratory work in neuroscience.
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