Identification and Potential Value of Candidate Genes in Patients With Non-obstructive Azoospermia

Shen, Yan; Wu, Xueqing; Li, Qiang; Huang, Xiang; Wang, Jinbao; Zhao, Lei; Zhang, Taijian; Xuan, Xujun

doi:10.1016/j.urology.2022.02.009

Cited by 8 publications

(2 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…TOP2A and small ubiquitin-like modifier proteins were reported to involve regulating dynamics of meiotic chromosome in germ cells (52). Several previous studies (53)(54)(55)(56) integrated published datasets to compare the transcriptomes of NOA testicular tissue samples as a whole with OA samples, and also identified some of the aforementioned hub genes to be highly relevant to the presence of NOA in their studies. To be specific, Kui et al reported UBE2C, CDC20, and TOP2A to be essential for NOA pathogenesis in their work (53), while Cao et al identified TYMS, OIP5, and BIRC5 as genes highly correlated with NOA (55).…”

Section: Discussionmentioning

confidence: 99%

Aberrant Gene Expression Profiling in Men With Sertoli Cell-Only Syndrome

et al. 2022

View full text Add to dashboard Cite

Sertoli cell-only syndrome (SCOS) is the most severe and common pathological type of non-obstructive azoospermia. The etiology of SCOS remains largely unknown to date despite a handful of studies reported in this area. According to the gene expression of testicular tissue samples in six datasets from the Gene Expression Omnibus, we detected 1441 differentially expressed genes (DEGs) between SCOS and obstructive azoospermia (OA) testicular tissue samples. Enriched GO terms and KEGG pathways for the downregulated genes included various terms and pathways related to cell cycle and reproduction, while the enrichment for the upregulated genes yielded many inflammation-related terms and pathways. In accordance with the protein-protein interaction (PPI) network, all genes in the most critical module belonged to the downregulated DEGs, and we obtained nine hub genes, including CCNB1, AURKA, CCNA2, BIRC5, TYMS, UBE2C, CDC20, TOP2A, and OIP5. Among these hub genes, six were also found in the most significant SCOS-specific module obtained from consensus module analysis. In addition, most of SCOS-specific modules did not have a consensus counterpart. Based on the downregulated genes, transcription factors (TFs) and kinases within the upstream regulatory network were predicted. Then, we compared the difference in infiltrating levels of immune cells between OA and SCOS samples and found a significantly higher degree of infiltration for most immune cells in SCOS than OA samples. Moreover, CD56bright natural killer cell was significantly associated with six hub genes. Enriched hallmark pathways in SCOS had remarkably more upregulated pathways than the downregulated ones. Collectively, we detected DEGs, significant modules, hub genes, upstream TFs and kinases, enriched downstream pathways, and infiltrated immune cells that might be specifically implicated in the pathogenesis of SCOS. These findings provide new insights into the pathogenesis of SCOS and fuel future advances in its theranostics.

show abstract

Section: Discussionmentioning

confidence: 99%

Aberrant Gene Expression Profiling in Men With Sertoli Cell-Only Syndrome

et al. 2022

View full text Add to dashboard Cite

show abstract

“…Another type of potential biomarker of male infertility is described in an interesting recent study aimed to identify some DEGs involved in non-obstructive azoospermia (NOA) and overall male infertility [103,104] through transcriptome sequencing to detect differences in mRNA expression in testicular tissue [105]. The authors demonstrated that of the 25 DEGs investigated, 8 genes (testicular haploid expressed gene (THEG), spermatogenesis associated 20 (SPATA20), rhophilin associated tail protein 1 like (ROPN1L), glutathione S-transferase F1 (GSTF1), serine kinase 1B (TSSK1B), calcium binding protein, spermatid associated 1 (CABS1), adenosine deaminase domain containing 1 (ADAD1), and RIMS binding protein 3 (RIMBP3)) are involved in the spermatogenic process or in specific phases of spermatogenesis, and hypothesized that the alteration in the expression of these genes leads to impaired spermatogenesis and, therefore, to male infertility.…”

Section: Differentially Expressed Genes (Degs)mentioning

confidence: 99%

Oxidative Stress Biomarkers in Male Infertility: Established Methodologies and Future Perspectives

Mottola,

Palmieri,

Carannante

et al. 2024

Genes

View full text Add to dashboard Cite

Male fertility can be affected by oxidative stress (OS), which occurs when an imbalance between the production of reactive oxygen species (ROS) and the body’s ability to neutralize them arises. OS can damage cells and influence sperm production. High levels of lipid peroxidation have been linked to reduced sperm motility and decreased fertilization ability. This literature review discusses the most commonly used biomarkers to measure sperm damage caused by ROS, such as the high level of OS in seminal plasma as an indicator of imbalance in antioxidant activity. The investigated biomarkers include 8-hydroxy-2-deoxyguanosine acid (8-OHdG), a marker of DNA damage caused by ROS, and F2 isoprostanoids (8-isoprostanes) produced by lipid peroxidation. Furthermore, this review focuses on recent methodologies including the NGS polymorphisms and differentially expressed gene (DEG) analysis, as well as the epigenetic mechanisms linked to ROS during spermatogenesis along with new methodologies developed to evaluate OS biomarkers. Finally, this review addresses a valuable insight into the mechanisms of male infertility provided by these advances and how they have led to new treatment possibilities. Overall, the use of biomarkers to evaluate OS in male infertility has supplied innovative diagnostic and therapeutic approaches, enhancing our understanding of male infertility mechanisms.

show abstract