Decreased miRNA expression in Klinefelter syndrome

Laura Cimino, Michele Salemi, Rossella Cannarella, Rosita A. Condorelli, Giorgio Giurato, Giovanna Marchese, Sandro La Vignera, Aldo E. Calogero

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Abstract

The widelyvariable phenotypic spectrum and the different severity of symptoms in men with Klinefelter syndrome (KS) suggest a role for epigenetic mediators. Therefore, the aim of this study is to evaluate the possible involvement of miRNAs in the clinical manifestations of KS. To accomplish this, we performed a transcriptome analysis in peripheral blood mononuclear cells (PBMCs) of 10 non-mosaic KS patients, 10 aged-matched healthy men and 10 aged-matched healthy female controls with normal karyotype. After RNA extraction from PBMC and the preparation of RNA libraries, the samples were sequenced using next generation high-throughput sequencing technology. Expression profiling analysis revealed a significant differential expression of 2 miRNAs in KS compared to male controls. In particular, MIR3648 resulted significantly (q-value < 0.0001) down-regulated by -19.084- fold, while MIR3687was strongly down-regulated (q-value < 0.0001) considering KS patients. These results were confirmed by qRT-PCR. The functional analysis of the two transcripts showed that they seem to play a role in breast cancer, hemopoietic abnormalities, immune defects and adipocyte differentiation and fat cell maturation. Therefore, we speculate that both miRNAs may play a role in the immune and metabolic disorders and in the risk of breast cancer development in men with KS.

Original languageEnglish
Article number16672
JournalScientific Reports
Volume7
Issue number1
DOIs
Publication statusPublished - Dec 1 2017

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    Cimino, L., Salemi, M., Cannarella, R., Condorelli, R. A., Giurato, G., Marchese, G., La Vignera, S., & Calogero, A. E. (2017). Decreased miRNA expression in Klinefelter syndrome. Scientific Reports, 7(1), [16672]. https://doi.org/10.1038/s41598-017-16892-3