Abstract
BackgroundKlinefelter 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.MethodsTo 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.ResultsNGS results showed a significantly lncRNAGAS5up-regulation by 5.171-fold in patients with KS. Theresults of qRT-PCR confirmed the NGS data.ConclusionsThese 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.
Highlights
Klinefelter syndrome (KS) is characterized by the presence of at least one supernumerary X chromosome
We examined Long non-coding RNA (lncRNA) levels of growth arrest-specific 5 (GAS5) in 10 KS patients and 10 age-matched controls
In conclusion, the results of this study showed a significant over-expression of lncRNA GAS5 in patients with non-mosaic KS compared to controls
Summary
Klinefelter syndrome (KS) is characterized by the presence of at least one supernumerary X chromosome. 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 most common karyotype is the classic 47,XXY one, which accounts for the 80–90% of all cases [3]. It is a consequence of a non-disjunction of paired X-chromosomes during the first or second meiotic division [3], due to a paternal or maternal meiotic mal segregation event [4]. Azoospermia is present in the 90% of non-mosaic KS, whereas severe oligozoospermia in the remaining 10% [7]
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