Assessment of HJV and SMN1 gene expression levels in infertile men: laboratory and bioinformatic approaches.

Abstract

Introduction and objectives: Infertility is a complex condition, with one of its key factors being the regulation of spermatogenesis, a process involving several critical genes. Previous in-silico studies have predicted a potential link between the HJV and SMN1 genes and spermatogenesis. This study aims to investigate the relationship between HJV and SMN1 gene expression in both blood and semen samples, and their association with male infertility, specifically azoospermia and oligospermia, through laboratory analysis. Furthermore, bioinformatic analyses were conducted to gain novel insights into these genes and, where applicable, to confirm their role in male infertility.

Methods and results: The expression levels of HJV and SMN1 genes were analyzed using Real-Time PCR to compare differences between healthy and infertile groups. Additionally, to gain novel insights into the role of these genes in male infertility, we analyzed validated online datasets using R Studio with various packages, including Limma. Regarding the blood samples, the HJV gene mRNA was almost absent and the SMN1 gene expression level showed a significant decrease in infertile patients compared to healthy men. In the case of semen samples, real-time analysis showed a decreased expression of both genes in the samples of infertile patients. The in-silico analysis on the existing datasets showed the agreement of some data with the data of the present analysis.

Conclusion: The significant differences in HJV and SMN1 gene expression observed in the semen samples of healthy and infertile men suggest a potential connection between these genes and defects in the spermatogenesis process in these patients. While some datasets supported these findings, others did not show a significant relationship.