Expression profile of microRNAs in the testes of patients with Klinefelter syndrome

Marisol Ibarra-Ramírez,Laura Elia Martínez-De-Villarreal,Manuel Nistal,José De Jesús Lugo-Trampe,Pilar González-Peramato,Geovana Calvo-Anguiano,David Rodríguez-Torres

doi:10.1038/s41598-020-68294-7

Marisol Ibarra-Ramírez, Laura Elia Martínez-De-Villarreal + Show 5 more

Open Access

https://doi.org/10.1038/s41598-020-68294-7

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Abstract

Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy. A distinctive characteristic of KS is oligozoospermia. Despite multiple studies that have described the natural history of the degenerative process of germ cells in patients with KS, the molecular mechanisms that initiate this process are not well characterized. MicroRNA (miRNA)-mediated post-transcriptional control mechanisms have been increasingly recognized as important regulators of spermatogenesis; however, only a few studies have evaluated the role of miRNAs in the gonadal failure of these patients. Here, we describe a differential expression profile for the miRNAs in testicular tissue samples taken from KS patients. We analysed testicular tissue samples from 4 KS patients and 5 control patients (obstructive azoospermia) through next-generation sequencing, which can provide information about the mechanisms involved in the degeneration of germ cells. A distinctive differential expression profile was identified for 166 miRNAs in the KS patients: 66 were upregulated, and 100 were downregulated. An interactome analysis was performed for 7 of the upregulated and the 20 downregulated miRNAs. The results showed that the target genes are involved in the development, proliferation, and differentiation processes of spermatogenesis, which may explain their role in the development of infertility. This is the first report of a miRNA expression profile generated from testicular tissue samples of KS patients.

Highlights

Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy
All the control samples were obtained from biopsied tissue of patients with infertility because of azoospermia who were in an age range of 30–40 years
MiRNA expression was analysed in testicular tissue biopsy samples from patients with KS and control samples from patients with obstructive azoospermia with normal testicular tissue histology

Summary

Introduction

Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy. A distinctive characteristic of KS is oligozoospermia. An interactome analysis was performed for 7 of the upregulated and the 20 downregulated miRNAs. The results showed that the target genes are involved in the development, proliferation, and differentiation processes of spermatogenesis, which may explain their role in the development of infertility. The results showed that the target genes are involved in the development, proliferation, and differentiation processes of spermatogenesis, which may explain their role in the development of infertility This is the first report of a miRNA expression profile generated from testicular tissue samples of KS patients. Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy in humans, with a prevalence of 1:500 live births[1] It was first described in 1942 as a syndrome characterized by gynaecomastia, azoospermia, and elevated levels of follicle-stimulating hormone (FSH)[2]. Transplantation of XY germ cells in 41,XXY testes enables some cells to complete spermatogenesis, suggesting that the primary cause of spermatogenesis disruption can be found in germ cells[12]

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