Genetics of Oocyte Maturation Defects and Early Embryo Development Arrest

Abstract

Various pathogenic factors can lead to oogenesis failure and seriously affect both female reproductive health and fertility. Genetic factors play an important role in folliculogenesis and oocyte maturation but still need to be clarified. Oocyte maturation is a well-organized complex process, regulated by a large number of genes. Pathogenic variants in these genes as well as aneuploidy, defects in mitochondrial genome, and other genetic and epigenetic factors can result in unexplained infertility, early pregnancy loss, and recurrent failures of IVF/ICSI programs due to poor ovarian response to stimulation, oocyte maturation arrest, poor gamete quality, fertilization failure, or early embryonic developmental arrest. In this paper, we review the main genes, as well as provide a description of the defects in the mitochondrial genome, associated with female infertility.

Keywords: embryo; female infertility; fertilization; genes; human reproduction; oocyte; oogenesis.

Figure 1

Schematic representation of oogenesis and folliculogenesis in humans, ovulation, fertilization, and early stages of embryonic development with indication of stages, hormones, and some genes involved in their regulation. Gonadotropin-independent, gonadotropin-responsive, and gonadotropin-dependent stages are indicated above. Oocyte maturation period is outlined with a dotted line. PGC, primordial germ cell (gonocyte). The genes are listed in rectangular boxes. AMH—Anti-Müllerian hormone; LH—Luteinizing hormone.