Department of Cell and Molecular Biology, Faculty of Life Sciences and Biotechnology, Shahid Beheshti University, Tehran, Iran.
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
J Mol Neurosci. 2024 Aug 26;74(3):81. doi: 10.1007/s12031-024-02258-8.
Autism is a severe neurodevelopmental condition with unknown pathobiology. Nevertheless, multiple pieces of evidence suggest long non-coding RNA (lncRNA) dysregulation may be a contributing factor to this disorder. We investigated the association between the expression of five specific lncRNAs and autism. Peripheral blood was collected from 30 children with autism and 41 healthy children. The expression levels of PCAT-29, lincRNA-ROR, LINC-PINT, lincRNA-p21, and PCAT-1 were calculated. Then, their significance as biomarkers was also evaluated. The expression of LincRNA-ROR (27 times), LINC-PINT (5.26 times), LincRNA-p21 (4.54 times), PCAT-29 (16.66 times), and PCAT-1 (25 times) genes was significantly decreased in patients compared to the control group (p values < 0.05). According to the ROC curve analysis for each lncRNA, LincRNA-ROR, LINC-PINT, LincRNA-p21, PCAT-29, and PCAT-1 lncRNAs with diagnostic power of 0.85, 0.67, 0.64, 0.74, and 0.84, respectively, could be used as diagnostic biomarkers for autism. Additionally, significant positive correlations were reported between expression levels of PCAT-1 and PCAT-29 genes. Moreover, a positive correlation was detected between expression levels of lincRNA-ROR and patients' age. The current study shows further pieces of evidence for deregulation of lncRNAs in autistic patients that show these lncRNAs may play an important part in the pathogenesis of ASD. However, the role of lncRNA in the neurobiology of autism needs to be investigated further.
自闭症是一种具有未知病理生物学的严重神经发育障碍。然而,多项证据表明,长非编码 RNA(lncRNA)失调可能是导致这种疾病的一个因素。我们研究了五种特定 lncRNA 的表达与自闭症之间的关系。从 30 名自闭症儿童和 41 名健康儿童中采集外周血。计算 PCAT-29、lincRNA-ROR、LINC-PINT、lincRNA-p21 和 PCAT-1 的表达水平。然后,还评估了它们作为生物标志物的意义。与对照组相比,患者中 LincRNA-ROR(27 倍)、LINC-PINT(5.26 倍)、LincRNA-p21(4.54 倍)、PCAT-29(16.66 倍)和 PCAT-1(25 倍)基因的表达显著降低(p 值<0.05)。根据每个 lncRNA 的 ROC 曲线分析,LincRNA-ROR、LINC-PINT、LincRNA-p21、PCAT-29 和 PCAT-1 lncRNAs 分别具有 0.85、0.67、0.64、0.74 和 0.84 的诊断能力,可作为自闭症的诊断生物标志物。此外,还报道了 PCAT-1 和 PCAT-29 基因表达水平之间存在显著的正相关。此外,还检测到 lincRNA-ROR 表达水平与患者年龄之间存在正相关。本研究进一步证明了自闭症患者 lncRNA 失调的证据,表明这些 lncRNA 可能在 ASD 的发病机制中发挥重要作用。然而,lncRNA 在自闭症的神经生物学中的作用需要进一步研究。