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Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study

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Abstract

Down syndrome (DS) is defined by the presence of a third copy of chromosome 21. Several comorbidities can be found in these patients, such as intellectual disability (ID), muscle weakness, hypotonia, congenital heart disease, and autoimmune diseases. The molecular mechanisms playing a role in the development of such comorbidities are still unclear. The regulation and expression of genes that map to chromosome 21 are dynamic and complex, so it is important to perform global gene expression studies with high statistical power to fully characterize the transcriptome in DS patients. This study was undertaken to evaluate mRNAs and lncRNA expression in patients with DS versus a matched cohort of healthy subjects. RNA sequencing was used to perform this transcriptome study. Differential expression analysis revealed 967 transcripts with padj ≤ 0.05. Among them, 447 transcripts were differentially expressed in patients with DS compared to controls. Particularly, 203 transcripts were down expressed (151 protein-coding mRNAs, 45 lncRNAs, 1 microRNA, 1 mitochondrial tRNA, 1 ribozyme, and 1 small nuclear RNA) and 244 were over expressed (210 protein-coding mRNAs and 34 lncRNAs). Interestingly, deregulated lncRNAs are involved in pathways that play a role in developmental disorders, neurological diseases, DNA replication and repair mechanisms, and cancer development in DS patients. In conclusion, these results suggest a role of lncRNAs in the phenotype of DS patients.

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Author notes

  1. Michele Salemi and Rossella Cannarella have equally contributed to this article.

Authors and Affiliations

  1. Oasi Research Institute-IRCCS, Troina, EN, Italy

    Michele Salemi, Maria Grazia Salluzzo, Concetta Barone, Mariangela Lo Giudice & Corrado Romano

  2. Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

    Rossella Cannarella & Aldo E. Calogero

  3. Genomix4Life Srl, Baronissi, SA, Italy

    Giovanna Marchese & Maria Ravo

Authors
  1. Michele Salemi
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  2. Rossella Cannarella
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  3. Giovanna Marchese
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  4. Maria Grazia Salluzzo
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  5. Maria Ravo
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Corresponding author

Correspondence to Michele Salemi.

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The study was approved on June 03, 2017 by the local IRB (protocol n. 2017/05/31/CE-IRCCS-OASI/9).

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Salemi, M., Cannarella, R., Marchese, G. et al. Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study. Human Cell 34, 1662–1670 (2021). https://doi.org/10.1007/s13577-021-00602-3

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  • DOI: https://doi.org/10.1007/s13577-021-00602-3

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