[Ovary genes and molecular pathology]

Sophie Christin-Maitre1, Nathalie Ronci-Chaix, Philippe Bouchard

  • 1Service d'Endocrinologie, Unité EA1533 Génétique de la Reproduction Humaine, Hôpital Saint-Antoine, 184, rue du faubourg Saint-Antoine, 75012 Paris.

Insights

Understanding ovarian follicle development is crucial. Key genes like Atm, kit ligand, and growth differentiation factor 9 (GDF-9) are vital for maintaining the ovarian follicle pool and early folliculogenesis.

Area of Science:

  • Reproductive biology and molecular endocrinology, focusing on ovarian physiology.

Context:

  • Folliculogenesis, the process of ovarian follicle development, involves intricate molecular signaling pathways.
  • Recent discoveries highlight novel genes and proteins crucial for various stages of follicle maturation.

Purpose:

  • To review the known molecular regulators of folliculogenesis, from primordial to preovulatory stages.
  • To emphasize the need for identifying new genes and regulatory mechanisms in ovarian diseases.

Summary:

  • Key genes such as Atm, kit ligand, c-kit, growth differentiation factor 9 (GDF-9), bone morphogenetic protein 15 (BMP15), Bax, Bcl2, and receptors for follicle-stimulating hormone (FSH) and luteinizing hormone (LH) are essential for ovarian follicle development and maintenance.
  • These factors regulate granulosa cell survival, oocyte-granulosa cell communication, and final follicular maturation and ovulation.

Impact:

  • Elucidating these pathways is critical for understanding and potentially treating ovarian disorders like premature ovarian failure.
  • Identifying novel genetic factors will advance reproductive medicine and fertility research.

Related Concept Videos

Ovaries01:26

Ovaries

The ovaries are roughly the size of almonds and measure approximately 2 to 3 centimeters in length. These paired structures are situated within the pelvic region and are anchored by the mesovarium—a peritoneal extension that also connects them to the wider structure of the broad ligament. The support system extends to the suspensory ligament, housing blood and lymphatic vessels. In addition, the ovarian ligament tethers the ovaries to the uterus.
On the ovarian surface, a layer of cuboidal...
Oogenesis02:07

Oogenesis

In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
Oogenesis01:22

Oogenesis

Oogenesis,  the process of developing egg cells (female gametes), occurs within the ovaries and is fundamental to female fertility. This sequence begins during fetal development when diploid oogonia in the developing ovaries undergo mitotic divisions to produce primary oocytes. By birth, these primary oocytes enter prophase I of meiosis but become arrested in this stage, remaining suspended until puberty.
Each primary oocyte is surrounded by a layer of pre-granulosa cells, forming what is known...
Hormonal Control of the Ovarian Cycle01:30

Hormonal Control of the Ovarian Cycle

The ovarian cycle is meticulously regulated by the hypothalamic-pituitary-gonadal axis. This cycle orchestrates the release of a mature oocyte, essential for reproduction.
Before puberty, the hypothalamus releases GnRH in a low frequency, low amplitude pulsatile manner. This along with the immature hypothalamic-pituitary-gonadal axis activity, results in low estrogen levels and the absence of a fully functional ovarian cycle.  At puberty, GnRH secretion increases in both frequency and...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...