Mehmetbeyoglu Ecmel, Duman Abdulkerim, Taheri Serpil, Ozkul Yusuf, Rassoulzadegan Minoo
Department of Cancer and Genetics, Cardiff University, Cardiff CF14 4XN, UK.
Betul-Ziya Eren Genome and Stem Cell Center, Erciyes University, Kayseri 38280, Turkey.
J Pers Med. 2023 Dec 15;13(12):1713. doi: 10.3390/jpm13121713.
Autism Spectrum Disorder (ASD) poses significant challenges to society and science due to its impact on communication, social interaction, and repetitive behavior patterns in affected children. The Autism and Developmental Disabilities Monitoring (ADDM) Network continuously monitors ASD prevalence and characteristics. In 2020, ASD prevalence was estimated at 1 in 36 children, with higher rates than previous estimates. This study focuses on ongoing ASD research conducted by Erciyes University. Serum samples from 45 ASD patients and 21 unrelated control participants were analyzed to assess the expression of 372 microRNAs (miRNAs). Six miRNAs (miR-19a-3p, miR-361-5p, miR-3613-3p, miR-150-5p, miR-126-3p, and miR-499a-5p) exhibited significant downregulation in all ASD patients compared to healthy controls. The current study endeavors to identify dependable diagnostic biomarkers for ASD, addressing the pressing need for non-invasive, accurate, and cost-effective diagnostic tools, as current methods are subjective and time-intensive. A pivotal discovery in this study is the potential diagnostic value of miR-126-3p, offering the promise of earlier and more accurate ASD diagnoses, potentially leading to improved intervention outcomes. Leveraging machine learning, such as the K-nearest neighbors (KNN) model, presents a promising avenue for precise ASD diagnosis using miRNA biomarkers.
自闭症谱系障碍(ASD)因其对受影响儿童的沟通、社交互动和重复行为模式的影响,给社会和科学带来了重大挑战。自闭症与发育障碍监测(ADDM)网络持续监测ASD的患病率和特征。2020年,估计每36名儿童中就有1名患有ASD,患病率高于先前的估计。本研究聚焦于埃尔西耶斯大学正在进行的ASD研究。分析了45名ASD患者和21名无关对照参与者的血清样本,以评估372种微小RNA(miRNA)的表达。与健康对照相比,6种miRNA(miR-19a-3p、miR-361-5p、miR-3613-3p、miR-150-5p、miR-126-3p和miR-499a-5p)在所有ASD患者中均表现出显著下调。当前研究致力于识别可靠的ASD诊断生物标志物,以满足对非侵入性、准确且经济高效的诊断工具的迫切需求,因为目前的方法主观且耗时。本研究的一个关键发现是miR-126-3p的潜在诊断价值,有望实现更早、更准确的ASD诊断,可能改善干预效果。利用机器学习,如K近邻(KNN)模型,为使用miRNA生物标志物进行精确的ASD诊断提供了一条有前景的途径。