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Minerva Endocrinologica 2020 Dec 17

DOI: 10.23736/S0391-1977.20.03357-X


language: English

GPR56 gene down-regulation in patients with Klinefelter syndrome: a candidate for infertility?

Michele SALEMI 1, Rossella CANNARELLA 2 , Laura CIMINO 2, Rosita A. CONDORELLI 2, Giorgio GIURATO 3, Giovanna MARCHESE 3, Angela CORDELLA 3, Sandro SANTA PAOLA 1, Corrado ROMANO 1, Sandro LA VIGNERA 2, Aldo E. CALOGERO 2

1 Oasi Research Institute-IRCCS, Troina, Enna, Italy; 2 Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy; 3 Genomix4Life Srl, Department of Medicine, Surgery and Dentistry Schola Medica Salernitana, University of Salerno, Baronissi, Salerno, Italy


PURPOSE: The etiology of azoospermia in patients with Klinefelter syndrome (KS) is still unknown. The protein codified by the G protein-couple receptor 56 (GPR56) belongs to the adhesion family of G protein-coupled receptors (GPRs). Its mutations are involved in the pathogenesis of intellectual disability and, according to animal studies, infertility. As the expression of GPR56 in patients with KS has not been investigated so far, this study was undertaken with the purpose of evaluating its expression in peripheral blood mononuclear cells (PBMCs) of patients with KS and normal controls.
MATERIALS AND METHODS: This age-matched case-control study was performed in 10 patients with KS and 10 controls. Patients and controls underwent to blood sampling for next-generation sequencing (NGS) analysis, and differentially expressed mRNAs were identified using DESeq2 v.1.12. QRT-PCR was used to validate the results obtained by NGS analysis. TaqMan Gene Expression Assay primers were used to carry out the Realtime PCR analysis for GPR56.
RESULTS: GPR56 was down-regulated by -2,081-fold (q-value<0.05) in PBMCs of patients with KS compared to controls. NGS data were confirmed by QRT-PCR.
CONCLUSIONS: The possible contribution of the GPR56 gene down-regulation in the pathogenesis of spermatogenic failure in patients with KS is worthy to be further explored.

KEY WORDS: Klinefelter syndrome; Infertility; Intellectual disability; GPR56; Germ cells

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