ST8SIA4 as a candidate diagnostic biomarker: Blood–cerebrospinal fluid signature in RRMS

IF 3 3区医学 Q2 CLINICAL NEUROLOGY

Multiple sclerosis and related disorders Pub Date : 2026-05-01 Epub Date: 2026-02-21 DOI:10.1016/j.msard.2026.107087

Tuba Denkçeken , Elif Onur

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引用次数: 0

Abstract

Objective

Multiple Sclerosis (MS) is a chronic autoimmune disease of the central nervous system characterized by inflammation, demyelination, and axonal degeneration, with relapsing-remitting MS (RRMS) representing its most prevalent clinical phenotype. This study aimed to investigate hub-genes and hub-miRNAs that were differentially expressed in peripheral blood mononuclear cell (PBMC) samples from RRMS patients and validate the hub-genes in cerebrospinal fluid (CSF) to assess their potential clinical diagnostic value.

Methods

All mRNA and miRNA expression profiling studies of RRMS in PBMC samples were downloaded from the GEO and ArrayExpress databases and differentially expressed mRNAs (DEGs) and miRNAs (DEMs) were determined. The regulation patterns of DEGs and DEMs were determined by fold change. Target genes of DEMs and common-gene clusters were defined, and then other bioinformatic approaches were applied. External validation of hub-genes was performed in CSF samples to confirm biological relevance beyond PBMCs and to evaluate their applicability as clinically accessible biomarkers.

Results

mRNA datasets 228 control and 209 RRMS, and miRNA datasets included 93 control and 84 RRMS PBMC samples. It was found that ATM, CREB1, ST8SIA4, hsa-miR-19b-3p, and hsa-miR-181c-5p are dysregulated in RRMS patients' PBMC samples. Then, hub-genes were validated and ST8SIA4 ROC analysis provided a sensitivity of 83.9% and specificity of 88% in discriminating RRMS from controls with an accuracy of 85.7%.

Conclusion

ST8SIA4 is regulated in the same direction in PBMC and CSF samples from RRMS patients and can discriminate between the RRMS and control groups with high sensitivity. It can be concluded that the high diagnostic accuracy of ST8SIA4 has the potential to be used as a novel biomarker alongside existing clinical and laboratory parameters to distinguish RRMS from controls during clinical examinations.

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ST8SIA4作为候选诊断生物标志物：RRMS的血脑脊液特征。

目的：多发性硬化症（MS）是一种以炎症、脱髓鞘和轴突变性为特征的中枢神经系统慢性自身免疫性疾病，复发缓解型MS （RRMS）是其最常见的临床表型。本研究旨在研究RRMS患者外周血单核细胞（PBMC）样本中差异表达的中心基因和中心mirna，并在脑脊液（CSF）中验证中心基因，以评估其潜在的临床诊断价值。方法：从GEO和ArrayExpress数据库下载PBMC样本中RRMS的所有mRNA和miRNA表达谱研究，并测定差异表达mRNA （DEGs）和miRNA （DEMs）。deg和dem的调节模式由折叠变化决定。定义dem的靶基因和共同基因簇，然后应用其他生物信息学方法。在脑脊液样本中进行中心基因的外部验证，以确认pbmc之外的生物学相关性，并评估其作为临床可获得的生物标志物的适用性。结果：mRNA数据集包括228个对照组和209个RRMS， miRNA数据集包括93个对照组和84个RRMS PBMC样本。结果发现，ATM、CREB1、ST8SIA4、hsa-miR-19b-3p、hsa-miR-181c-5p在RRMS患者PBMC样本中表达异常。然后，对中心基因进行验证，ST8SIA4 ROC分析在区分RRMS和对照组方面的敏感性为83.9%，特异性为88%，准确率为85.7%。结论：ST8SIA4在RRMS患者的PBMC和CSF样本中呈同向调控，具有较高的区分RRMS和对照组的敏感性。由此可见，ST8SIA4的高诊断准确性有潜力作为一种新的生物标志物，与现有的临床和实验室参数一起，在临床检查中将RRMS与对照组区分开来。

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来源期刊

Multiple sclerosis and related disorders CLINICAL NEUROLOGY-

CiteScore

5.80

自引率

20.00%

发文量

814

审稿时长

66 days

期刊介绍： Multiple Sclerosis is an area of ever expanding research and escalating publications. Multiple Sclerosis and Related Disorders is a wide ranging international journal supported by key researchers from all neuroscience domains that focus on MS and associated disease of the central nervous system. The primary aim of this new journal is the rapid publication of high quality original research in the field. Important secondary aims will be timely updates and editorials on important scientific and clinical care advances, controversies in the field, and invited opinion articles from current thought leaders on topical issues. One section of the journal will focus on teaching, written to enhance the practice of community and academic neurologists involved in the care of MS patients. Summaries of key articles written for a lay audience will be provided as an on-line resource. A team of four chief editors is supported by leading section editors who will commission and appraise original and review articles concerning: clinical neurology, neuroimaging, neuropathology, neuroepidemiology, therapeutics, genetics / transcriptomics, experimental models, neuroimmunology, biomarkers, neuropsychology, neurorehabilitation, measurement scales, teaching, neuroethics and lay communication.