Near East University, Faculty of Medicine, Department of Medical Genetics, Nicosia, Cyprus.
British Cyprus IVF Hospital, Embryology Lab, Nicosia, Cyprus.
Zygote. 2023 Dec;31(6):605-611. doi: 10.1017/S0967199423000539. Epub 2023 Nov 23.
Maintaining genomic stability is crucial for normal development. At earlier stages of preimplantation development, as the embryonic genome activation is not fully completed, the embryos may be more prone to abnormalities. Aneuploidies are one of the most common genetic causes of implantation failure or first-trimester miscarriages. Apoptosis is a crucial mechanism to eliminate damaged or abnormal cells from the organism to enable healthy growth. Therefore, this study aimed to determine the relationship between the expression levels of genes involved in apoptosis in human aneuploid and euploid blastocysts. In total, 32 human embryos obtained from 21 patients were used for this study. Trophectoderm biopsies were performed and next-generation screening was carried out for aneuploidy screening. Total RNA was extracted from each blastocyst separately and cDNA was synthesized. Gene expression levels were evaluated using RT-PCR. The statistical analysis was performed to evaluate the gene expression level variations in the euploid and aneuploid embryos, respectively. The expression level of the gene was significantly different between the aneuploid and euploid samples. BAX expression levels were found to be 1.5-fold lower in aneuploid cells. However, the expression levels of and genes were similar in each group. This study aimed to investigate the possible role of genes involved in apoptosis and aneuploidy mechanisms. The findings of this investigation revealed that the gene was expressed significantly differently between aneuploid and euploid embryos. Therefore, it is possible that the genes involved in the apoptotic pathway have a role in the aneuploidy mechanism.
维持基因组稳定性对于正常发育至关重要。在着床前胚胎发育的早期阶段,由于胚胎基因组激活尚未完全完成,胚胎可能更容易出现异常。非整倍体是着床失败或早期流产的最常见遗传原因之一。细胞凋亡是从生物体中清除受损或异常细胞以促进健康生长的关键机制。因此,本研究旨在确定凋亡相关基因在人类非整倍体和整倍体囊胚中的表达水平之间的关系。本研究共使用了 21 名患者的 32 个人类胚胎。进行滋养外胚层活检,并对非整倍体进行下一代筛查。从每个囊胚中分别提取总 RNA,并合成 cDNA。使用 RT-PCR 评估基因表达水平。进行统计分析以分别评估整倍体和非整倍体胚胎中的基因表达水平变化。基因的表达水平在非整倍体和整倍体样本之间存在显著差异。在非整倍体细胞中,BAX 的表达水平降低了 1.5 倍。然而,在每组中,和基因的表达水平相似。本研究旨在探讨参与凋亡和非整倍体机制的基因的可能作用。该研究的结果表明,非整倍体和整倍体胚胎之间的基因表达水平存在显著差异。因此,参与凋亡途径的基因可能在非整倍体机制中发挥作用。