小儿癫痫患者血液样本中循环MicroRNA水平的实时定量PCR分析

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-04-02 DOI:10.1016/j.genrep.2025.102214

Haidar J. Muhammed , Marwa M. Al-Attar , Zainab Fayadh Shubrem , Mohanad Kareem Aneed Al-Saedi , Maryam Qasim Mohammed

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引用次数: 0

摘要

儿童癫痫在第一年很常见，其发病率随着年龄的增长而下降。根据以前的调查，伊拉克的癫痫患病率为每1000名儿童1.0例。microrna在包括大脑发育和功能在内的各种生物过程中发挥着至关重要的作用，并已成为癫痫复杂病理生理的潜在关键参与者。本研究旨在研究成熟形式的mirna，包括miR-30a-5p和miR-577在癫痫患者中的表达水平，并探索其作为该疾病生物标志物的潜力。方法80例癫痫患者（n = 40）和健康对照（n = 40）被纳入研究。从全血中提取miRNA，使用专用试剂盒将其转化为互补DNA (cDNA)，并使用定量实时PCR （qRT-PCR）对miR-30a-5p、miR-577和参比基因snRNA-U6进行定量。结果与健康对照组相比，癫痫患者miR-30a-5p显著上调（p值为0.01）。各组间miR-577表达无差异（p值，0.2）。观察到两种mirna之间存在弱负相关，表明可能存在负相关。受试者工作特征（ROC）曲线分析表明，miR-30a-5p可能作为癫痫的生物标志物。结论本研究提示miR-30a-5p呈上调，根据ROC曲线可作为早期癫痫检测的生物标志物。相反，miR-577虽然表达减少，但由于其缺乏统计学意义和较差的诊断性能，被认为不适合作为生物标志物。

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Quantitative real-time PCR analysis of circulating MicroRNA levels in blood samples from pediatric patients with epilepsy

Background

Epilepsy in childhood is common in the first year and its incidence decreases with age increase. The prevalence of epilepsy in Iraq was 1.0 per 1000 children according to a previous investigation. MicroRNAs play crucial roles in various biological processes, including brain development and function, and have emerged as potential key players in the complex pathophysiology of epilepsy. This study aimed to investigate the expression levels of miRNAs in their mature forms including miR-30a-5p and miR-577, in epilepsy patients and to explore their potential as biomarkers for the disease.

Methods

Eighty participants were enrolled in the study classified as (n = 40) Epilepsy patients along with (n = 40) as healthy controls (HCs). The miRNA was extracted from whole blood, converted to complementary DNA (cDNA) using a specialized kit, and quantified using quantitative real-time PCR (qRT-PCR) for miR-30a-5p, miR-577, and the reference gene snRNA-U6.

Results

The results revealed a significant upregulation of miR-30a-5p in epilepsy patients compared to healthy controls with (p-value, 0.01). The miR-577 expression did not differ between groups (p-value, 0.2). A weak negative correlation between the two miRNAs was observed, suggesting a potential inverse correlation. Receiver Operating Characteristic (ROC) curve analysis indicated that miR-30a-5p may serve as a biomarker for epilepsy.

Conclusion

This study suggests that miR-30a-5p, showing upregulation and according to the ROC curve may act as an early epilepsy detection biomarker. Conversely, miR-577, despite a decrease in expression, is deemed unsuitable as a biomarker due to its lack of statistical significance and poor diagnostic performance.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports 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. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.