Bayyurt Burcu, Şahin Nil Özbilüm, Işık Cansu Mercan
Department of Medical Biology, Faculty of Medicine, Sivas Cumhuriyet University, Sivas, Turkey.
Department of Molecular Biology and Genetics, Faculty of Science, Sivas Cumhuriyet University, Sivas, Turkey.
J Mol Neurosci. 2024 Nov 15;74(4):109. doi: 10.1007/s12031-024-02288-2.
Specific learning disorder (SLD) is prevalent worldwide and is a complex disorder with variable symptoms and significant differences among individuals. Epigenetic markers may alter susceptibility to neurodevelopmental disorders (NDDs). Aberrant expression of protein-coding (mRNA) genes in this pathology shows that the detection of epigenetic molecular biomarkers is of increasing importance in the diagnosis and treatment of individuals with SLD. We compared gene expression level of dyslexia susceptibility 1 candidate gene 1 (DYX1C1), dyslexia-associated protein KIAA0319 (KIAA0319), and roundabout guidance receptor 1 (ROBO1) between children with SLD and healthy children by performing quantitative polymerase chain reaction (qPCR). In addition, we evaluated these gene expressions of severe children with SLD compared to non-severe and male SLD children compared to females. The expression of the DYX1C1, KIAA0319, and ROBO1 genes was statistically significantly upregulated in children with SLD (P < 0.05*). DYX1C1 was also upregulated in severe SLD children (P = 0.03*). In addition, KIAA0319 and ROBO1 genes were differentially expressed in male SLD children compared to females (P < 0.05*). Furthermore, we found that DYX1C1 and ROBO1 genes significantly affect the likelihood of the SLD (respectively, P < 0.001** and P = 0.007*). We expect that the findings provided from this study may contribute to the determination expression level of the relevant genes in the diagnosis, prognosis, and treatment of SLD. In addition, our findings could be a guide for future epigenetics studies on the use of the DYX1C1, KIAA0319, and ROBO1 in therapeutic applications in the SLD.
特定学习障碍 (SLD) 在全球范围内普遍存在,是一种复杂的疾病,具有不同的症状和个体之间的显著差异。表观遗传标记可能会改变对神经发育障碍 (NDD) 的易感性。在这种病理学中,蛋白质编码 (mRNA) 基因的异常表达表明,检测表观遗传分子生物标志物在 SLD 患者的诊断和治疗中变得越来越重要。我们通过定量聚合酶链反应 (qPCR) 比较了 SLD 儿童和健康儿童之间的诵读困难易感性 1 候选基因 1 (DYX1C1)、与诵读困难相关的蛋白 KIAA0319 (KIAA0319) 和回旋诱导受体 1 (ROBO1) 的基因表达水平。此外,我们还评估了严重 SLD 儿童与非严重 SLD 儿童以及男性 SLD 儿童与女性 SLD 儿童之间的这些基因表达。与健康儿童相比,SLD 儿童的 DYX1C1、KIAA0319 和 ROBO1 基因表达均呈统计学显著上调 (P < 0.05*)。在严重 SLD 儿童中,DYX1C1 也呈上调 (P = 0.03*)。此外,与女性相比,男性 SLD 儿童的 KIAA0319 和 ROBO1 基因表达存在差异 (P < 0.05*)。此外,我们发现 DYX1C1 和 ROBO1 基因显著影响 SLD 的可能性 (分别为 P < 0.001** 和 P = 0.007*)。我们期望本研究提供的发现可能有助于确定 SLD 相关基因的表达水平,从而用于 SLD 的诊断、预后和治疗。此外,我们的发现可以为未来的表观遗传学研究提供指导,以在 SLD 的治疗中使用 DYX1C1、KIAA0319 和 ROBO1。
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