Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland.
Faculty of Biology, Adam Mickiewicz University in Poznan, 61-614 Poznan, Poland.
Int J Mol Sci. 2022 Apr 19;23(9):4516. doi: 10.3390/ijms23094516.
Epigenetic modifications play a special role in the male infertility aetiology. Published data indicate the link between sperm quality and sperm chromatin protamination. This study aimed to determine the relationship between methylation (5mC) and hydroxymethylation (5hmC) in sperm DNA, with respect to sperm chromatin protamination in three subpopulations of fertile normozoospermic controls and infertile patients with oligo-/oligoasthenozoospermia. For the first time, a sequential staining protocol was applied, which allowed researchers to analyse 5mC/5hmC levels by immunofluorescence staining, with a previously determined chromatin protamination status (aniline blue staining), using the same spermatozoa. TUNEL assay determined the sperm DNA fragmentation level. The 5mC/5hmC levels were diversified with respect to chromatin protamination status in both studied groups of males, with the highest values observed in protaminated spermatozoa. The linkage between chromatin protamination and 5mC/5hmC levels in control males disappeared in patients with deteriorated semen parameters. A relationship between 5mC/5hmC and sperm motility/morphology was identified in the patient group. Measuring the 5mC/5hmC status of sperm DNA according to sperm chromatin integrity provides evidence of correct spermatogenesis, and its disruption may represent a prognostic marker for reproductive failure.
表观遗传修饰在男性不育病因学中起着特殊作用。已发表的数据表明精子质量与精子染色质鱼精蛋白之间存在关联。本研究旨在确定精子 DNA 中甲基化(5mC)和羟甲基化(5hmC)与正常生育力的正常精子对照和少精子症/弱精子症不育患者的精子染色质鱼精蛋白之间的关系。首次应用了一种顺序染色方案,该方案允许研究人员使用同一精子通过免疫荧光染色分析 5mC/5hmC 水平,同时还可以确定先前确定的染色质鱼精蛋白状态(苯胺蓝染色)。TUNEL 测定确定了精子 DNA 碎片化水平。在两个研究组的男性中,5mC/5hmC 水平与染色质鱼精蛋白状态多样化,在鱼精蛋白化的精子中观察到最高值。在精液参数恶化的患者中,控制男性的染色质鱼精蛋白与 5mC/5hmC 水平之间的联系消失了。在患者组中发现了 5mC/5hmC 与精子运动力/形态之间的关系。根据精子染色质完整性测量精子 DNA 的 5mC/5hmC 状态提供了正确精子发生的证据,其破坏可能代表生殖失败的预后标志物。