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Infertility is a worldwide problem affecting about 15% of couples trying to conceive. Asthenozoospermia (AZS) is one of the major causes of male infertility, diagnosed by reduced sperm motility, and has no effective therapeutic treatment. To date, a few genes have been found to be associated with AZS in humans and mice, but in most of cases its molecular aetiology remains unknown. Genetic causes of AZS may include chromosomal abnormalities, specific mutations of nuclear and mitochondrial genes. However recently, epigenetic factors, altered microRNAs expression signature, and proteomics have shed light on the pathophysiological basis of AZS. This review article summarises the reported genetic causes of AZS. [ABSTRACT FROM AUTHOR]

Asthenozoospermia (AZS), which characterised by reduced forward sperm motility, is a common cause of male infertility. Recently, mitochondrial dysfunction reported in AZS men came to attention for finding the molecular aetiology of AZS. Mitochondria‐related microRNAs (miRNAs) are the most important regulators of mitochondrial function through post‐transcriptionally modulation of gene expression. Therefore, this study aims to evaluate the expression of four recently reported mitochondrial‐related miRNAs (miR‐4485‐3p/4484/4461 and 4463) in the sperm sample of asthenozoospermic men. RNA was extracted from spermatozoa of 74 volunteers (39 patients with idiopathic AZS and 35 controls with normal fertility), and relative gene expression analysis was performed by quantitative PCR. We used SNORD48 as a normaliser gene, and quantification was calculated by 2−ΔΔCt method. The expression of miR‐4484 and miR‐4461 was not detected in the spermatozoa of cases and controls. However, miR‐4485‐3p (p =.006) was significantly downregulated in the AZS men compared with the controls, but the miR‐4463 expression was not significantly different between the two groups (p =.5). Bioinformatic analysis identified three target genes for miR‐4485‐3p (DNAH1, KIT and PARK7) that are related to male infertility. In conclusion, the downregulation of miR‐4485‐3p was associated with idiopathic AZS, which could be a molecular link between mitochondrial dysfunction and AZS. [ABSTRACT FROM AUTHOR]

Asthenozoospermia (AZS) which is characterised by decreased sperm motility is one of the main causes of male infertility. Recent studies demonstrated altered microRNAs (miRNAs) in total semen, seminal plasma and spermatozoa of asthenozoospermic men. In line with these studies, it was aimed to evaluate the miRNA expression profile in spermatozoa of unexplained asthenozoospermic men. Thirty‐nine cases with idiopathic AZS and 35 fertile and healthy men as control were included. After total RNA extraction from spermatozoa, high‐throughput sequencing technology was employed to display miRNA profiles in spermatozoa samples pooled from AZS cases and healthy controls. Relative quantification by real‐time PCR was performed to validate RNA‐seq results. SNORD48 was used as normaliser gene, and fold change was calculated by 2−ΔΔCt method. Profiling results showed that 18 altered miRNAs in AZS men in comparison to controls. Subsequently, seven miRNAs were selected to validate by RT‐PCR that showed MiR‐888‐3p significantly overexpressed in AZS cases (p = 0.014) in comparison with controls. It seems upregulation of miR‐888‐3p was associated with idiopathic AZS. This finding paves the way to the future investigation on the actual molecular role of miR‐888‐3p in aetiology of AZS. [ABSTRACT FROM AUTHOR]