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Identification of Key Genes in Patients with Non-Obstructive Azoospermia
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Fatemeh Zahra Mahmoudi    , Dariush Gholami * , Ali Mohammadian , Hossein Azizi |
| Department of Bioinformatics and Applied Biotechnology, Faculty of Biotechnology, Amol University of Special Modern Technologies, Amol, Iran , d.gholami@ausmt.ac.ir |
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Abstract: (138 Views) |
Background: Non-obstructive azoospermia is one of the most important causes of male infertility. Its main characteristic is the frequent absence of sperm in the semen or a low number of sperm, and it is not fully developed. This study aims to find key genes in non-obstructive azoospermia patients and their role that may affect the biomarkers related to spermatogenesis.
Methods: Using transcriptome and sequencing datasets in the gene expression database (GEO), hub genes related to spermatogenesis were identified. Based on them, gene functional enrichment analysis (GO), gene and genome enrichment pathway analysis (KEGG), protein-protein interaction (PPI) network analysis, cellular analysis, and temporal analysis identified a total of 50 differentially expressed genes, of which, 5 genes related to spermatogenesis (CDC20, BUB1B, CCNB1, CCNA2 and PLK1) have been reported, and the expression of these 5 hub genes was different in each type of sperm cells.
Results: The analysis results of the 5 hub genes showed that these hub genes were expressed in primary spermatocytes, round spermatids, long spermatids, and sperm during spermatogenesis. PLK1 expression was at the highest level. During the differentiation of spermatogonia into primary spermatocytes, CDC20 expression was nearly undetectable, whereas the expression levels of BUB1B, CCNB1, and CCNA2 were elevated compared to that of BUB1B.
Conclusion: The research revealed that these five hub genes exhibit distinct differences in sperm development and may play a crucial role in the differentiation of various sperm cells. This result is crucial for elucidating the pathogenic mechanism of non-obstructive azoospermia and for further research.
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| Keywords: Non-obstructive, Azoospermia, Spermatogenesis, Hub Gene |
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Full-Text [PDF 650 kb]
(68 Downloads)
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Type of Study: article |
Subject:
Genetics and molecular medicine
Received: 2025/09/6 | Accepted: 2025/11/8 | Published: 2025/12/23
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