Int J Med Sci 2020; 17(10):1315-1319. doi:10.7150/ijms.45386 This issue

Research Paper

Long non-coding RNA GAS5 expression in patients with Down syndrome

Michele Salemi1✉, Giovanna Marchese2, Angela Cordella2, Rossella Cannarella3, Concetta Barone1, Maria Grazia Salluzzo1, Aldo E. Calogero3, Corrado Romano1

1. Oasi Research Institute-IRCCS, Troina (EN), Italy.
2. Genomix4Life Srl, Department of Medicine, Surgery and Dentistry “Scuola Medica Salernitana”, University of Salerno, Baronissi (SA), Italy.
3. Department of Clinical and Experimental Medicine, University of Catania.95123 Catania. Italy.

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Salemi M, Marchese G, Cordella A, Cannarella R, Barone C, Salluzzo MG, Calogero AE, Romano C. Long non-coding RNA GAS5 expression in patients with Down syndrome. Int J Med Sci 2020; 17(10):1315-1319. doi:10.7150/ijms.45386. Available from

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Trisomy 21, also known as Down Syndrome (DS), is the most common chromosome abnormality and causes intellectual disability. Long non-coding RNA (lncRNA) growth arrest-specific 5 (GAS5), whose differential expression has recently been reported in patients with Klinefelter syndrome, has been addressed to play a role in the development of inflammatory and autoimmune diseases, vascular endothelial cells apoptosis and atherosclerosis, all being common features in patients with DS. Therefore, the aim of this study was to assess the lncRNA GAS5 expression profile in DS patients and in controls. lncRNA GAS5 levels were evaluated by qRT-PCR assay in 23 patients with DS and 23 age-matched controls. A significant lncRNA GAS5 down-regulation was observed in patients with DS by RT-PCR analysis, The RNA sequencing experiments confirmed the qRT-PCR data. LncRNA GAS5 down-expression may play a role in the development of some typical features of the patients with DS and, particularly, in inflammatory and autoimmune diseases.

Keywords: Down Syndrome, lncRNA GAS5, expression, qRT-PCR, RNA sequencing