Genetic Abnormalities of Oocyte Maturation: Mechanisms and Clinical Implications

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.