H19/miR-484 axis serves as a candidate biomarker correlated with autism spectrum disorder

IF 1.6 4区医学 Q3 DEVELOPMENTAL BIOLOGY International Journal of Developmental Neuroscience Pub Date : 2025-01-03 DOI:10.1002/jdn.10403

Yancai Li, Chunlong Liu, Qianqi Jin, Haizhen Yu, Huaijin Long

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Abstract

Background

Autism spectrum disorder (ASD) appears to be a common neurological developmental deficit disorder in pediatric patients, resulting in a tremendous burden on society.

Purpose

The article aimed to explore early diagnostic markers for ASD.

Methods

Levels of long non-coding RNA (lncRNA) H19 and microRNA-484 (miR-484) were detected using fluorescence quantitative polymerase chain reaction (PCR). The Spearman method was applied for the correlation analysis with ASD severity. To evaluate the role of H19 and miR-484 role in ASD diagnosis, the receiver operator characteristic (ROC) curve was plotted. Luciferase reporter assay was used to confirm the targeting relationship between H19 and miR-484. The functions and pathways related to miR-484 target genes were annotated by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis.

Results

Elevated H19 levels were detected in ASD patients, which was positively correlated with disease severity. MiR-484 showed a decreasing trend in ASD patients, while it was negatively related to disease severity. Both H19 and miR-484 can distinguish ASD cases from controls with an AUC of 0.878 and 0.868, respectively. Luciferase reporter assay determined the target relationship between H19 and miR-484., and their combination showed the highest diagnostic value for ASD (AUC = 0.906). GO and KEGG analysis demonstrated the targeted genes of miR-484 were related to the development of ASD, and EIF4G2 and SMARCA2 were the main core genes.

Conclusion

H19 and miR-484 were dysregulated in ASD patients and were both associated with disease severity. The combined H19 and miR-484 represented a high diagnostic value for ASD.

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H19/miR-484轴作为与自闭症谱系障碍相关的候选生物标志物。

背景：自闭症谱系障碍（Autism spectrum disorder， ASD）是儿科患者常见的神经发育缺陷障碍，给社会造成了巨大的负担。目的：探讨ASD的早期诊断标志物。方法：采用荧光定量聚合酶链式反应（PCR）检测长链非编码RNA (lncRNA) H19和microRNA-484 （miR-484）水平。采用Spearman方法进行与ASD严重程度的相关性分析。为了评估H19和miR-484在ASD诊断中的作用，绘制受试者操作者特征（ROC）曲线。荧光素酶报告基因检测证实H19与miR-484之间的靶向关系。通过基因本体（GO）和京都基因与基因组百科全书（KEGG）分析对miR-484靶基因的相关功能和通路进行注释。结果：ASD患者H19水平升高，且与病情严重程度呈正相关。MiR-484在ASD患者中呈下降趋势，与疾病严重程度呈负相关。H19和miR-484均能区分ASD病例和对照组，AUC分别为0.878和0.868。荧光素酶报告基因检测确定了H19与miR-484之间的靶标关系。，两者组合对ASD的诊断价值最高（AUC = 0.906）。GO和KEGG分析显示miR-484的靶基因与ASD的发展相关，其中EIF4G2和SMARCA2是主要核心基因。结论：H19和miR-484在ASD患者中表达异常，且均与疾病严重程度相关。H19和miR-484联合表达对ASD具有较高的诊断价值。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

International Journal of Developmental Neuroscience 医学-发育生物学

CiteScore

3.30

自引率

5.60%

发文量

审稿时长

6-12 weeks

期刊介绍： International Journal of Developmental Neuroscience publishes original research articles and critical review papers on all fundamental and clinical aspects of nervous system development, renewal and regeneration, as well as on the effects of genetic and environmental perturbations of brain development and homeostasis leading to neurodevelopmental disorders and neurological conditions. Studies describing the involvement of stem cells in nervous system maintenance and disease (including brain tumours), stem cell-based approaches for the investigation of neurodegenerative diseases, roles of neuroinflammation in development and disease, and neuroevolution are also encouraged. Investigations using molecular, cellular, physiological, genetic and epigenetic approaches in model systems ranging from simple invertebrates to human iPSC-based 2D and 3D models are encouraged, as are studies using experimental models that provide behavioural or evolutionary insights. The journal also publishes Special Issues dealing with topics at the cutting edge of research edited by Guest Editors appointed by the Editor in Chief. A major aim of the journal is to facilitate the transfer of fundamental studies of nervous system development, maintenance, and disease to clinical applications. The journal thus intends to disseminate valuable information for both biologists and physicians. International Journal of Developmental Neuroscience is owned and supported by The International Society for Developmental Neuroscience (ISDN), an organization of scientists interested in advancing developmental neuroscience research in the broadest sense.