Baldini Giorgio Maria, Ferri Daniele, Malvasi Antonio, Laganà Antonio Simone, Vimercati Antonella, Dellino Miriam, Baldini Domenico, Trojano Giuseppe
Obstetrics and Gynecology Unit, Department of Biomedical Sciences and Human Oncology, University of Bari "Aldo Moro", 70121 Bari, Italy.
IVF Center, Momo Fertilife, 76011 Bisceglie, Italy.
Int J Mol Sci. 2024 Dec 3;25(23):13002. doi: 10.3390/ijms252313002.
Genetic anomalies in oocyte maturation present significant fertility and embryonic development challenges. This review explores the intricate mechanisms of nuclear and cytoplasmic maturation, emphasizing the genetic and molecular factors contributing to oocyte quality and competence. Chromosomal mutations, errors in segregation, genetic mutations in signaling pathways and meiosis-related genes, and epigenetic alterations are discussed as critical contributors to oocyte maturation defects. The role of mitochondrial defects, maternal mRNA dysregulation, and critical proteins such as NLRP14 and BMP6 are highlighted. Understanding these genetic factors is crucial for improving diagnostic approaches and therapeutic interventions in reproductive medicine, particularly for couples encountering recurrent in vitro fertilization failures. This review will explore how specific genetic mutations impact fertility treatments and reproductive success by examining the intricate oocyte maturation process. We will focus on genetic abnormalities that may disrupt the oocyte maturation pathway, discussing the underlying mechanisms involved and considering their potential clinical implications for enhancing fertility outcomes.
卵母细胞成熟过程中的基因异常给生育能力和胚胎发育带来了重大挑战。本综述探讨了核成熟和细胞质成熟的复杂机制，着重强调了影响卵母细胞质量和能力的遗传及分子因素。文中讨论了染色体突变、分离错误、信号通路和减数分裂相关基因的基因突变以及表观遗传改变，这些都是导致卵母细胞成熟缺陷的关键因素。同时还突出了线粒体缺陷、母体mRNA失调以及NLRP14和BMP6等关键蛋白的作用。了解这些遗传因素对于改进生殖医学的诊断方法和治疗干预措施至关重要，尤其是对于那些反复经历体外受精失败的夫妇。本综述将通过研究复杂的卵母细胞成熟过程，探讨特定基因突变如何影响生育治疗和生殖成功。我们将重点关注可能扰乱卵母细胞成熟途径的基因异常，讨论其中涉及的潜在机制，并考虑它们对提高生育结果的潜在临床意义。
