Oasi Research Institute-IRCCS, Troina (EN), Italy.
Genomix4Life Srl, Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Baronissi (SA), Italy.
Int J Med Sci. 2020 May 23;17(10):1315-1319. doi: 10.7150/ijms.45386. eCollection 2020.
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 (), 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 expression profile in DS patients and in controls. lncRNA levels were evaluated by qRT-PCR assay in 23 patients with DS and 23 age-matched controls. A significant lncRNA down-regulation was observed in patients with DS by RT-PCR analysis, The RNA sequencing experiments confirmed the qRT-PCR data. LncRNA 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.
21 三体，又称唐氏综合征（DS），是最常见的染色体异常，可导致智力障碍。长链非编码 RNA（lncRNA）生长停滞特异性 5（），其在 Klinefelter 综合征患者中的差异表达最近已被报道，被认为在炎症和自身免疫性疾病、血管内皮细胞凋亡和动脉粥样硬化的发展中发挥作用，这些都是 DS 患者的常见特征。因此，本研究旨在评估 DS 患者和对照组中的 lncRNA 表达谱。通过 qRT-PCR 检测了 23 例 DS 患者和 23 名年龄匹配的对照组中的 lncRNA 水平。通过 RT-PCR 分析观察到 DS 患者 lncRNA 显著下调，RNA 测序实验证实了 qRT-PCR 数据。lncRNA 的下调表达可能在 DS 患者的一些典型特征的发展中发挥作用，特别是在炎症和自身免疫性疾病中。
