Ivanova Anna, Korchivaia Elena, Semenova Maria, Lebedev Igor, Mazunin Ilya, Volodyaev Ilya
Faculty of Biology, Moscow State University, Moscow, Russia.
Faculty of Biology, Moscow State University, Moscow, Russia.
HGG Adv. 2025 Apr 10;6(3):100437. doi: 10.1016/j.xhgg.2025.100437.
Chromosomal abnormalities in human pre-implantation embryos, originating from either meiotic or mitotic errors, present a significant challenge in reproductive biology. Complete aneuploidy is primarily linked to errors during the resumption of meiosis in oocyte maturation, which increase with maternal age, while mosaic aneuploidies result from mitotic errors after fertilization. The biological causes of these abnormalities are increasingly becoming a topic of interest for research groups and clinical specialists. This review explores the intricate processes of meiotic and early mitotic divisions in embryos, shedding light on the mechanisms that lead to changes in chromosome number in daughter cells. Key factors in meiotic division include difficulties in spindle assembly without centrosomes, kinetochore (KT) orientation disturbances, and inefficient cell-cycle checkpoints. The weakening of cohesion molecules that bind chromosomes, exacerbated by maternal aging, further complicates chromosomal segregation. Mitotic errors in early development are influenced by defects in sperm centrosomes, KT misalignment, and the gradual depletion of maternal regulatory factors. Coupled with the inactive or partially active embryonic genome, this depletion increases the likelihood of chromosomal aberrations. While various theoretical mechanisms for these abnormalities exist, current data remain insufficient to determine their exact contributions. Continued research is essential to unravel these complex processes and improve outcomes in assisted reproductive technologies.
人类植入前胚胎中的染色体异常,源于减数分裂或有丝分裂错误,这在生殖生物学中构成了重大挑战。完全非整倍体主要与卵母细胞成熟过程中减数分裂恢复期间的错误有关,这种错误会随着母亲年龄的增长而增加,而嵌合非整倍体则是受精后有丝分裂错误的结果。这些异常的生物学原因日益成为研究团队和临床专家感兴趣的话题。本综述探讨了胚胎中减数分裂和早期有丝分裂的复杂过程,揭示了导致子细胞染色体数目变化的机制。减数分裂的关键因素包括无中心体时纺锤体组装困难、动粒(KT)定向紊乱以及细胞周期检查点效率低下。结合染色体的黏连分子的减弱,因母亲年龄增长而加剧,进一步使染色体分离复杂化。早期发育中的有丝分裂错误受精子中心体缺陷、KT 排列错误以及母体调节因子逐渐耗尽的影响。再加上胚胎基因组不活跃或部分活跃,这种耗尽增加了染色体畸变的可能性。虽然存在这些异常的各种理论机制,但目前的数据仍不足以确定它们的确切作用。持续的研究对于阐明这些复杂过程并改善辅助生殖技术的结果至关重要。