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发热性惊厥患者脑脊液外泌体 microRNA 表达谱。

Exosomal microRNA expression profiles of cerebrospinal fluid in febrile seizure patients.

机构信息

Department of Pediatrics, Chung-Ang University Hospital, Seoul, Republic of Korea.

Department of Laboratory Medicine, Chung-Ang University Hospital, Seoul, Republic of Korea.

出版信息

Seizure. 2020 Oct;81:47-52. doi: 10.1016/j.seizure.2020.07.015. Epub 2020 Jul 22.

Abstract

PURPOSE

Febrile seizures (FS) are the most common seizures found in pediatric patients. Recently, microRNA (miRNA) have been used as a novel biomarker for the diagnosis of various diseases. This study aims to explore the exosomal miRNA expression profile of the cerebrospinal fluid (CSF) in atypical FS patients.

METHODS

This is a case-control study including CSF specimens of 41 pediatric patients. The CSF specimens were categorized into FS and a control group. Microarray assays were performed to evaluate the CSF exosomal miRNA expression profile. Quantitative PCR (qPCR) assays were conducted to validate the microarray assay result. Bioinformatic analysis was performed to analyze the result.

RESULTS

Thirteen (62%) patients in the FS group experienced complex FS. A total of 96 miRNAs were significantly expressed in the CSF study samples and 95 amongst them, exhibited higher expression in FS than in the control group. Further validation qPCR test indicated that the top 5 highly expressed miRNA (miR-4486, miR-6850-5p, miR-642b-3p, miR-7107-5p, miR-4281) showed same results as in the microarray assay. Bioinformatic analysis identified 455 target genes in the FS group.

CONCLUSION

FS patients displayed higher CSF exosomal miRNA profiles than the control. These altered miRNA profiles appeared to be related to complex FS.

摘要

目的

热性惊厥(FS)是儿科患者中最常见的惊厥。最近,microRNA(miRNA)已被用作各种疾病诊断的新型生物标志物。本研究旨在探讨非典型 FS 患者脑脊液(CSF)中细胞外体 miRNA 表达谱。

方法

这是一项包括 41 名儿科患者 CSF 标本的病例对照研究。CSF 标本分为 FS 组和对照组。通过微阵列分析评估 CSF 外泌体 miRNA 表达谱。通过定量 PCR(qPCR)检测进行验证。通过生物信息学分析对结果进行分析。

结果

FS 组中有 13 例(62%)患者出现复杂 FS。在 CSF 研究样本中,共有 96 个 miRNA 表达显著,其中 95 个在 FS 组中表达高于对照组。进一步的验证 qPCR 测试表明,前 5 个高表达 miRNA(miR-4486、miR-6850-5p、miR-642b-3p、miR-7107-5p、miR-4281)的结果与微阵列检测结果一致。生物信息学分析鉴定出 FS 组中的 455 个靶基因。

结论

FS 患者的 CSF 外泌体 miRNA 谱高于对照组。这些改变的 miRNA 谱似乎与复杂 FS 有关。

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