Shenzhen Polytechnic University, No.7098 Liuxian Avenue, Nanshan District, Shenzhen, 518055, Guangdong, China.
Guangdong Nantian Institute of Forensic Science, No.5003 Binhe Road, Futian District, Shenzhen, 518033, Guangdong, China.
J Mol Neurosci. 2023 Oct;73(9-10):865-873. doi: 10.1007/s12031-023-02161-8. Epub 2023 Oct 13.
The characteristics of ncRNA in children with autism spectrum disorder (ASD) were observed to disclose a theoretical basis for further research on molecular markers for early warning of ASD. Children with ASD and normal control children were recruited to collect peripheral blood RNA samples. The concentration of PVT1 and miR-21-5p was quantitatively analyzed by qRT-PCR. Pearson correlation coefficient method was used to evaluate the link between PVT1 level and miR-21-5p level of the children. Receiver operating characteristic (ROC) curves were applied to reckon the predictive value of PVT1, miR-21-5p, and their combination in ASD. The interconnection of PVT1 with miR-21-5p was represented by luciferase reporter assay. The targeted genes of miR-21-5p were predicted. The enrichment and protein interaction analysis of these genes was carried out to find the important core genes and analyze their value in ASD. In the disease group, the level of PVT1 was downregulated, while the content of miR-21-5p was upregulated. The expression level of serum miR-21-5p was negatively correlated with the level of PVT1. Luciferase reporter gene assay documented that PVT1 directly targeted miR-21-5p. ROC curve showed that PVT1, miR-21-5p, and their combination showed clinical value for disease diagnosis. The functional enrichment analysis showed that the targets of miR-21-5p participated in ASD by regulating related functions and pathways. Reduced expression of PVT1 and raised miR-21-5p were good diagnostic markers for ASD, which would provide a basis for effective prevention, early diagnosis, and early intervention of ASD.
观察自闭症谱系障碍（ASD）儿童中 ncRNA 的特征，旨在为 ASD 早期预警的分子标志物的进一步研究提供理论依据。招募 ASD 儿童和正常对照儿童以收集外周血 RNA 样本。通过 qRT-PCR 定量分析 PVT1 和 miR-21-5p 的浓度。采用 Pearson 相关系数法评估儿童 PVT1 水平与 miR-21-5p 水平之间的联系。应用受试者工作特征（ROC）曲线计算 PVT1、miR-21-5p 及其组合在 ASD 中的预测价值。通过荧光素酶报告实验表示 PVT1 与 miR-21-5p 的相互关系。预测 miR-21-5p 的靶向基因。对这些基因进行富集和蛋白质相互作用分析，以找到重要的核心基因，并分析它们在 ASD 中的价值。在疾病组中，PVT1 水平下调，而 miR-21-5p 含量上调。血清 miR-21-5p 的表达水平与 PVT1 水平呈负相关。荧光素酶报告基因实验证明 PVT1 可直接靶向 miR-21-5p。ROC 曲线表明 PVT1、miR-21-5p 及其组合对疾病诊断具有临床价值。功能富集分析表明，miR-21-5p 的靶基因通过调节相关功能和途径参与 ASD。PVT1 表达降低和 miR-21-5p 升高是 ASD 的良好诊断标志物，为 ASD 的有效预防、早期诊断和早期干预提供了依据。
