Neurophysiology Research Center, Hamadan University of Medical Sciences, Hamadan, Iran.
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
J Mol Neurosci. 2019 Dec;69(4):588-596. doi: 10.1007/s12031-019-01387-9. Epub 2019 Jul 30.
Autism spectrum disorder (ASD) includes a number of severe neurodevelopmental disorders known by defects in social interaction, impaired verbal and non-verbal interactions, and stereotypic activities and limited interests. Dysregulation of apoptotic pathways have been demonstrated in brain tissues of affected individuals. In the present study, we evaluated expression levels of apoptosis-related genes and miRNAs in peripheral blood of ASD patients compared with healthy subjects. Transcript levels of BCL2, CASP8, and hsa-29c-3p were significantly lower in total ASD patients compared with total normal children (P values = 0.003, 0.002, and 0.01 respectively). When sex of study participants was considered in the analysis, the difference in transcript levels of these genes was significant only in male subjects. Peripheral expression of BCL2 and hsa-29c-3p had 100% sensitivity 92% specificity in ASD diagnosis. The diagnostic power of combination of transcript levels of these genes was estimated to be 78% based on the calculated AUC value. The present study provides evidences for dysregulation of apoptotic pathways in peripheral blood of ASD patients and suggests certain apoptosis-related genes as biomarkers in this regard.
自闭症谱系障碍（ASD）包括一系列严重的神经发育障碍，其特征为社交互动缺陷、言语和非言语交流障碍、刻板活动和兴趣有限。在受影响个体的脑组织中已经证明了细胞凋亡途径的失调。在本研究中，我们评估了 ASD 患者与健康受试者外周血中与细胞凋亡相关的基因和 miRNA 的表达水平。与正常儿童相比，总 ASD 患者的 BCL2、CASP8 和 hsa-29c-3p 的转录水平显著降低（P 值分别为 0.003、0.002 和 0.01）。当分析考虑研究参与者的性别时，这些基因的转录水平差异仅在男性受试者中显著。BCL2 和 hsa-29c-3p 的外周表达在 ASD 诊断中有 100%的灵敏度和 92%的特异性。根据计算的 AUC 值，这些基因转录水平的组合的诊断能力估计为 78%。本研究为 ASD 患者外周血中细胞凋亡途径的失调提供了证据，并提示某些与细胞凋亡相关的基因可作为该方面的生物标志物。
