1. Expression and Function of Long Non-coding RNA in Endemic Cretinism.
- Author
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He Y, Li J, Chen Y, Ren B, Zhou Z, Liu J, Gao H, Li F, Li B, Liu L, and Shen H
- Subjects
- Humans, Protein Interaction Maps genetics, Male, Female, Gene Expression Profiling, Gene Ontology, Gene Regulatory Networks, RNA, Long Noncoding genetics, RNA, Long Noncoding metabolism, RNA, Messenger genetics, RNA, Messenger metabolism
- Abstract
Endemic cretinism (EC) is one of the most severe iodine deficiency disorders, leading to typical symptoms such as neurodevelopmental impairments or mental deficits. In addition to environmental factors, the pathogenesis of its genetic contribution remains unclear. The study revealed the differential expression profiles of long non-coding RNA(lncRNA) and messenger RNA(mRNA) based on high-throughput RNA-seq. GO and KEGG analyses were used to annotate the function and pathway of differentially expressed (DE) mRNA and co-expressed mRNA. The protein-protein interaction(PPI) network was established. The expression levels of three lncRNAs and six mRNAs were validated by quantitative real-time PCR analysis (qRT-PCR) and subjected to correlation analysis. Compared to controls, a total of 864 lncRNAs and 393 mRNAs were differentially expressed. The PPI network had 149 nodes and 238 edges, and three key protein-coding genes were observed. Levels of LINC01220 and target mRNA IDO1 were statistically elevated in EC patients. Differentially expressed lncRNA may be a new potential player in EC. LINC01220 and IDO1 might interact with each other to participate in EC. The biological process of regulation of postsynaptic membrane potential and the Rap1 signaling pathway might exert a regulating role in the pathophysiological process of EC. Our findings could provide more theoretical and experimental evidence for investigating the pathophysiological mechanisms of EC., Competing Interests: Declarations. Ethics Approval: All procedures performed in studies involving human participants were by the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. The study protocol was approved by the Ethics Review Committee of Harbin Medical University (No. hrbmuecdc20201201). Consent to Participate: Written informed consent was provided by all control participants and guardians of all patients. Consent for Publication: Consent to publish from the participant was obtained to report individual participant data. Competing Interests: The authors declare that they have no competing interests., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
- Published
- 2025
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