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Investigation of LncRNA PVT1 and MiR-21-5p Expression as Promising Novel Biomarkers for Autism Spectrum Disorder

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Abstract

The characteristics of ncRNA in children with autism spectrum disorder (ASD) were observed to disclose a theoretical basis for further research on molecular markers for early warning of ASD. Children with ASD and normal control children were recruited to collect peripheral blood RNA samples. The concentration of PVT1 and miR-21-5p was quantitatively analyzed by qRT-PCR. Pearson correlation coefficient method was used to evaluate the link between PVT1 level and miR-21-5p level of the children. Receiver operating characteristic (ROC) curves were applied to reckon the predictive value of PVT1, miR-21-5p, and their combination in ASD. The interconnection of PVT1 with miR-21-5p was represented by luciferase reporter assay. The targeted genes of miR-21-5p were predicted. The enrichment and protein interaction analysis of these genes was carried out to find the important core genes and analyze their value in ASD. In the disease group, the level of PVT1 was downregulated, while the content of miR-21-5p was upregulated. The expression level of serum miR-21-5p was negatively correlated with the level of PVT1. Luciferase reporter gene assay documented that PVT1 directly targeted miR-21-5p. ROC curve showed that PVT1, miR-21-5p, and their combination showed clinical value for disease diagnosis. The functional enrichment analysis showed that the targets of miR-21-5p participated in ASD by regulating related functions and pathways. Reduced expression of PVT1 and raised miR-21-5p were good diagnostic markers for ASD, which would provide a basis for effective prevention, early diagnosis, and early intervention of ASD.

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Data Availability

The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.

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Contributions

All the authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by Mingjun Jiang and Guanwen Chen. The first draft of the manuscript was written by Mingjun Jiang, and all the authors commented on the previous versions of the manuscript. All the authors read and approved the final manuscript.

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Correspondence to Mingjun Jiang or Guanwen Chen.

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Ethical Approval

This study was performed in line with the principles of the Declaration of Helsinki. The Ethics Committee of Shenzhen Polytechnic University provided the approval for this research.

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The guardian of the study knew and signed the informed consent form before joining the study.

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The authors declare no competing interests.

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Jiang, M., Chen, G. Investigation of LncRNA PVT1 and MiR-21-5p Expression as Promising Novel Biomarkers for Autism Spectrum Disorder. J Mol Neurosci 73, 865–873 (2023). https://doi.org/10.1007/s12031-023-02161-8

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  • DOI: https://doi.org/10.1007/s12031-023-02161-8

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