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Csnk1a1p 在伊朗孤独症谱系障碍人群中的表达改变:病例对照研究。

Altered expression of Csnk1a1p in Autism Spectrum Disorder in Iranian population: case-control study.

机构信息

Psychiatry and Behavioral Sciences Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.

Metabolic Disorders Research Center, Golestan University of Medical Sciences, Gorgan, Iran.

出版信息

Sci Rep. 2024 Nov 16;14(1):28307. doi: 10.1038/s41598-024-77603-3.

Abstract

Over the past decade, substantial scientific evidence has showed that long non-coding RNAs (lncRNAs) are extensively expressed and play a crucial role in gene modulation through a diverse range of transcriptional, and post-transcriptional mechanisms. Recent discoveries have emphasized the involvement of lncRNAs in maintaining cellular homeostasis and neurogenesis in the brain. Accumulating reports identified dysregulated lncRNAs associated with psychiatric disorders, including autism. In this study, we examined the expression levels of DISC2, Linc00945, Foxg1-as1, Csnk1a1p, and Evf2 lncRNAs in blood samples from 21 clinically diagnosed autistic patients based on the Diagnostic and Statistical Manual of Mental Disorders criteria-5th edition (DSM-5), compared to age, sex, and ethnically-matched 25 healthy individuals. RNA extraction and cDNA synthesis were performed, followed by real-time PCR for quantification of lncRNAs expression levels. Receiver operating characteristic (ROC) curve analysis was used to evaluate biomarker potential. Additionally, we investigated the correlation between gene expression levels and autism comorbidities. Our results showed a significant decrease in Csnk1a1p expression in patients with autism spectrum disorder (ASD) compared to healthy children (P value = 0.0008). ROC curve analysis indicated that Csnk1a1p expression levels could effectively discriminate patients from healthy controls (AUC = 0.837, P value = 0.000284). No significant differences were observed between Csnk1a1p expression levels and comorbidity with ADHD or intellectual disability (p-value > 0.05). Based on these findings, Csnk1a1p may play a significant role in autistic patients and could serve as a potential biomarker for diagnostic and predictive purposes, as well as a therapeutic target.

摘要

在过去的十年中,大量科学证据表明,长非编码 RNA(lncRNA)广泛表达,并通过多种转录和转录后机制在基因调控中发挥关键作用。最近的发现强调了 lncRNA 参与维持大脑中的细胞内稳态和神经发生。越来越多的报道确定了与精神疾病相关的失调 lncRNA,包括自闭症。在这项研究中,我们根据精神障碍诊断和统计手册第 5 版(DSM-5)标准,检查了 21 名临床诊断为自闭症患者的血液样本中 DISC2、Linc00945、Foxg1-as1、Csnk1a1p 和 Evf2 lncRNA 的表达水平,与年龄、性别和种族相匹配的 25 名健康个体进行了比较。进行了 RNA 提取和 cDNA 合成,然后进行实时 PCR 定量检测 lncRNA 的表达水平。使用接收者操作特征(ROC)曲线分析评估生物标志物的潜力。此外,我们还研究了基因表达水平与自闭症合并症之间的相关性。我们的结果表明,自闭症谱系障碍(ASD)患者的 Csnk1a1p 表达显著降低,与健康儿童相比(P 值=0.0008)。ROC 曲线分析表明,Csnk1a1p 表达水平可以有效区分患者和健康对照组(AUC=0.837,P 值=0.000284)。未观察到 Csnk1a1p 表达水平与 ADHD 或智力残疾的合并症之间存在显著差异(p 值>0.05)。基于这些发现,Csnk1a1p 可能在自闭症患者中发挥重要作用,可作为诊断和预测目的的潜在生物标志物,以及治疗靶标。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9279/11569213/04d80584d3f1/41598_2024_77603_Fig1_HTML.jpg

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