Salemi Michele, Cannarella Rossella, Condorelli Rosita A, Cimino Laura, Ridolfo Federico, Giurato Giorgio, Romano Corrado, La Vignera Sandro, Calogero Aldo E
Oasi Research Institute-IRCCS, Troina (EN), Italy.
Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
BMC Med Genet. 2019 Jan 7;20(1):4. doi: 10.1186/s12881-018-0744-0.
Klinefelter syndrome (KS) is characterized by the presence of at least one supernumerary X chromosome. KS typical symptoms include tall stature, gynecomastia, hypogonadism and azoospermia. KS patients show a higher risk of developing metabolic and cardiovascular diseases, inflammatory and autoimmune disorders, osteoporosis and cancer. Long non-coding RNA (lncRNA) growth arrest-specific 5 (GAS5) has been shown to be involved in several biologic processes, including inflammatory and autoimmune diseases, vascular endothelial cells apoptosis and atherosclerosis, as well as cellular growth and proliferation, cellular development and cell-to-cell signaling and interaction. The lncRNA GAS5 expression profile in KS patients has never been evaluated so far.
To accomplish this, GAS5 mRNA levels were evaluated by Next Generation Sequencing (NGS) technology and qRT-PCR assay in 10 patients with KS and 10 age-matched controls.
NGS results showed a significantly lncRNAGAS5up-regulation by 5.171-fold in patients with KS. Theresults of qRT-PCR confirmed the NGS data.
These findings showed the occurrence of lncRNA GAS5 over-expression in KS patients. Whether this lncRNA is involved in the pathogenesis of inflammation and autoimmune diseases, atherogenesis or germ cell depletion in KS patients is not known. Further studies are needed.
克氏综合征（KS）的特征是至少存在一条额外的X染色体。KS的典型症状包括身材高大、男性乳房发育、性腺功能减退和无精子症。KS患者患代谢和心血管疾病、炎症和自身免疫性疾病、骨质疏松症和癌症的风险更高。长链非编码RNA（lncRNA）生长停滞特异性5（GAS5）已被证明参与多种生物学过程，包括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，以及细胞生长和增殖、细胞发育以及细胞间信号传导和相互作用。迄今为止，尚未评估KS患者中lncRNA GAS5的表达谱。
为此，通过下一代测序（NGS）技术和qRT-PCR检测，对10例KS患者和10例年龄匹配的对照者的GAS5 mRNA水平进行了评估。
NGS结果显示，KS患者lncRNAGAS5显著上调5.171倍。qRT-PCR结果证实了NGS数据。
这些发现表明KS患者中存在lncRNA GAS5过表达。目前尚不清楚这种lncRNA是否参与KS患者炎症和自身免疫性疾病的发病机制、动脉粥样硬化形成或生殖细胞耗竭。需要进一步研究。
