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

Michele Salemi, Giovanna Marchese, Angela Cordella, Rossella Cannarella, Concetta Barone, Maria Grazia Salluzzo, Aldo E. Calogero, Corrado Romano

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1315-1319
Number of pages5
JournalInternational Journal of Medical Sciences
Issue number10
Publication statusPublished - 2020


  • Down Syndrome
  • expression
  • lncRNA GAS5
  • qRT-PCR
  • RNA sequencing

ASJC Scopus subject areas

  • Medicine(all)


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