Laboratory of Genetics, Comparative and Evolutionary Biology, Department of Biochemistry and Biotechnology, University of Thessaly, Viopolis, Mezourlo, 41500 Larissa, Greece.
Laboratory of Biology, Genetics and Bioinformatics, Department of Animal Sciences, University of Thessaly, Gaiopolis, 41336 Larissa, Greece.
Int J Mol Sci. 2024 Apr 8;25(7):4121. doi: 10.3390/ijms25074121.
Infertility is a global health challenge that affects an estimated 72.4 million people worldwide. Between 30 and 50% of these cases involve male factors, showcasing the complex nature of male infertility, which can be attributed to both environmental and genetic determinants. Asthenozoospermia, a condition characterized by reduced sperm motility, stands out as a significant contributor to male infertility. This study explores the involvement of the mitochondrial oxidative phosphorylation (OXPHOS) system, crucial for ATP production and sperm motility, in asthenozoospermia. Through whole-genome sequencing and in silico analysis, our aim was to identify and characterize OXPHOS gene variants specific to individuals with asthenozoospermia. Our analysis identified 680,099 unique variants, with 309 located within OXPHOS genes. Nine of these variants were prioritized due to their significant implications, such as potential associations with diseases, effects on gene expression, protein function, etc. Interestingly, none of these variants had been previously associated with male infertility, opening up new avenues for research. Thus, through our comprehensive approach, we provide valuable insights into the genetic factors that influence sperm motility, laying the foundation for future research in the field of male infertility.
不孕不育是一个全球性的健康挑战，全球约有 7240 万人受到影响。这些病例中有 30%至 50%涉及男性因素，这突显了男性不育的复杂性，其可能归因于环境和遗传因素。弱精症是一种精子运动能力降低的病症，是男性不育的一个重要因素。本研究探讨了线粒体氧化磷酸化（OXPHOS）系统在弱精症中的作用，该系统对 ATP 产生和精子运动能力至关重要。通过全基因组测序和计算机分析，我们旨在鉴定和描述特定于弱精症个体的 OXPHOS 基因变异。我们的分析确定了 680099 个独特的变异，其中 309 个位于 OXPHOS 基因内。由于其具有重要意义，例如与疾病的潜在关联、对基因表达、蛋白质功能等的影响，其中 9 个变异被优先考虑。有趣的是，这些变异中没有一个先前与男性不育有关，为研究开辟了新的途径。因此，通过我们的综合方法，我们深入了解了影响精子运动能力的遗传因素，为男性不育领域的未来研究奠定了基础。
