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首页> 外文期刊>European journal of neurology: the official journal of the European Federation of Neurological Societies >Circulating microRNAs as potential biomarkers for genetic generalized epilepsies: a three microRNA panel
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Circulating microRNAs as potential biomarkers for genetic generalized epilepsies: a three microRNA panel

机译：将MicroRNA循环作为遗传广义癫痫的潜在生物标志物：三个MicroRNA面板

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Background and purpose Genetic generalized epilepsies (GGEs) encompass a group of syndromes of mainly genetic causes, characterized by the involvement of both hemispheres. MicroRNAs (miRNAs) are small non‐coding RNAs with a critical role in the regulation of neuronal biological processes through gene expression modulation. Dysregulated miRNA expression has been shown in epilepsy. Due to their stability in biological fluids like serum, miRNAs have assumed a prominent role in biomarker research. Our aim was to evaluate circulating levels of three miRNAs in GGE patients and assess their putative diagnostic value. Methods MiR‐146a, miR‐155 and miR‐132 were quantified by real‐time polymerase chain reaction in the serum of 79 GGE patients (47 women, 32 men, 35.1?±?12.4?years) and 67 healthy individuals (41 women, 26 men, 42.4?±?10.1?years). Relative expression values were calculated using the 2 –ΔΔCt method. Receiver operating characteristic curve analysis was performed to assess diagnostic value. MiRNA expression was correlated with clinicopathological features. Results Serum levels of miR‐146a and miR‐155 were significantly upregulated in GGE patients relative to controls (3.13 and 6.05, respectively). Combined miR‐146a, miR‐155 and miR‐132 serum levels performed well as a diagnostic biomarker, discriminating GGE patients from controls with an area under the curve of 0.85, 80% specificity and 73% sensitivity. Conclusions Our results indicate that miR‐146a, miR‐155 and miR‐132 may partake in GGE epileptogenesis. A panel of three circulating miRNAs with potential value as a GGE biomarker is reported for the first time. Novel biomarkers may help to identify new treatment targets and contribute to improved patients’ quality of life through earlier diagnosis and a more precise prognosis.
机译：背景和目的遗传广义癫痫（峡谷）包括一组主要遗传原因的综合征，其特征在于两个半球的累积。 MicroRNAs（miRNA）是小非编码RNA，通过基因表达调制调节神经元生物过程的关键作用。在癫痫中显示了失调的miRNA表达。由于它们在血清等生物液中的稳定性，MiRNA在生物标志物研究中占据了突出作用。我们的目的是评估GGE患者中三个miRNA的循环水平，并评估其推定的诊断价值。方法MiR-146a，miR-155和miR-132通过79岁患者血清中的实时聚合酶链反应量化（47名女性，32名男子，35.1？±12.4岁）和67个健康个体（41名女性，26名男子，42.4？±10.1？年）。使用2-ΔΔCT方法计算相对表达值。进行接收器操作特征曲线分析以评估诊断价值。 miRNA表达与临床病理学特征相关。结果在GGE患者相对于对照（分别为3.13和6.05）中显着上调MiR-146a和miR-155的血清水平。 MiR-146a，miR-155和miR-132血清水平良好地作为诊断生物标志物进行，鉴别GGE患者从曲线下的面积为0.85，80％特异性和73％的灵敏度。结论我们的结果表明MIR-146A，MIR-155和MIR-132可以参与GGE癫痫发作。首次报告了作为GGE生物标志物的三个具有潜在值的三个循环miRNA。新型生物标志物可能有助于识别新的治疗目标，并通过早期的诊断和更精确的预后改善患者的生活质量。

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