Salman Aya, Radwan Abdullah F, Shaker Olfat G, A Adel, Sayed Ghadir A
Department of Biochemistry & Molecular Biology, Faculty of Pharmacy, Egyptian Russian University, Cairo, 11829, Egypt.
Department of Pharmacy, Kut University College, Wasit, 52001, Iraq.
Hum Genomics. 2025 Mar 31;19(1):35. doi: 10.1186/s40246-025-00742-9.
Infertility is a major global health problem, affecting 8-12% of couples worldwide, with male causes contributing to approximately 50% of cases. Notably, around 15% of infertile men are azoospermic. Consequently, there is a critical necessity to find noninvasive biomarkers to help in diagnosing and assessing the susceptibility of patients with various infertility disorders. This study is designed to determine the roles of NEAT1 and miR-34a as diagnostic and susceptibility biomarkers for non-obstructive azoospermia and severe oligospermia. The interactions between these non-coding RNA (ncRNAs) were explored, along with their correlations to hormonal profiles and clinical parameters like sperm count and motility. The potential of serum NEAT1 and miR-34a as diagnostic biomarkers for these conditions was explored. The study included 100 participants: 40 non-obstructive azoospermia patients, 40 severe oligospermia patients, and 20 healthy controls. Quantitative real-time PCR and transcriptomics-based bioinformatics tools were employed to explore the co-expression networks and molecular interactions of NEAT1, miR-34a, SIRT1, and their associated hormonal and genetic pathways. Results indicated that NEAT1 was significantly downregulated in severe oligospermia patients, while its levels in non-obstructive azoospermia patients did not differ significantly from healthy controls. Furthermore, serum miR-34a expression was considerably upregulated in both patient groups compared to controls. This study highlights the promise of serum NEAT1 and miR-34a as diagnostic markers for non-obstructive azoospermia and severe oligospermia. These findings provide valuable insights into male infertility and indicate potential avenues for personalized treatment strategies.
不孕症是一个重大的全球健康问题，影响着全球8% - 12%的夫妇，其中男性因素导致的病例约占50%。值得注意的是，约15%的不育男性为无精子症。因此，迫切需要找到非侵入性生物标志物，以帮助诊断和评估各种不孕症患者的易感性。本研究旨在确定NEAT1和miR - 34a作为非梗阻性无精子症和严重少精子症的诊断及易感性生物标志物的作用。探讨了这些非编码RNA（ncRNAs）之间的相互作用，以及它们与激素水平和精子数量、活力等临床参数的相关性。研究了血清NEAT1和miR - 34a作为这些病症诊断生物标志物的潜力。该研究纳入了100名参与者：40名非梗阻性无精子症患者、40名严重少精子症患者和20名健康对照者。采用定量实时PCR和基于转录组学的生物信息学工具，探讨NEAT1、miR - 34a、SIRT1及其相关激素和遗传途径的共表达网络和分子相互作用。结果表明，NEAT1在严重少精子症患者中显著下调，而在非梗阻性无精子症患者中的水平与健康对照者无显著差异。此外，与对照组相比，两个患者组的血清miR - 34a表达均显著上调。本研究突出了血清NEAT1和miR - 34a作为非梗阻性无精子症和严重少精子症诊断标志物的前景。这些发现为男性不育症提供了有价值的见解，并指出了个性化治疗策略的潜在途径。
