The role of ERK-1 and ERK-2 gene polymorphisms in PCOS pathogenesis

Gurhan Guney1, Mine Islimye Taşkın2, Nazli Sener2

  • 1Department of Reproductive Endocrinology and Infertility, Balikesir University Medical Faculty, Cagis Yerleskesi,Bigadic Yolu 17.km, 10145, Balıkesir, Turkey. gurhanguney@yahoo.com.

Abstract

Insights

Polycystic ovary syndrome (PCOS) is linked to genetic variations in extracellular signal-regulated kinase (ERK) genes. Specific ERK-1 and ERK-2 gene polymorphisms correlate with PCOS and associated metabolic and hormonal markers.

Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Medicine

Background:

  • Ovulation is regulated by extracellular signal-regulated kinase-1 (ERK-1) and ERK-2 signaling pathways.
  • Defective ERK signaling contributes to ovulatory and metabolic issues in polycystic ovary syndrome (PCOS).

Purpose of the Study:

  • To investigate ERK-1 and ERK-2 gene polymorphisms in PCOS for the first time in the Turkish population.
  • To determine the association between these polymorphisms and PCOS-related clinical and biochemical parameters.

Main Methods:

  • A case-control study included 102 PCOS patients and 102 healthy controls.
  • Genotyping of ERK-2 rs2276008 and ERK-1 rs11865228 single nucleotide polymorphisms (SNPs) was performed using real-time PCR.
  • Clinical parameters (BMI, Ferriman-Gallwey score, waist-to-hip ratio) and biochemical markers (lipid profile, CRP, total testosterone, HOMA-IR) were assessed.

Main Results:

  • Significant differences in ERK-1 and ERK-2 genotypes were observed between PCOS patients and controls.
  • In PCOS patients, ERK-1 GA and ERK-2 GC genotypes were associated with variations in BMI, FGS, HOMA-IR, CRP, total testosterone, and total cholesterol.

Conclusions:

  • ERK-1 and ERK-2 genes play a role in the pathogenesis of PCOS.
  • Heterozygote polymorphic types of ERK-1 and ERK-2 genes are related to BMI, FGS, HOMA-IR, and CRP levels in PCOS.

Related Concept Videos

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...
64.2K
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.6K
Role of ER in the Secretory Pathway01:17

Role of ER in the Secretory Pathway

Eukaryotic cells have a special pathway that enables communication between various intracellular membrane-bound compartments and also with the extracellular environment. This pathway is termed as the secretory pathway.
Components of the secretory pathway
About a third of proteins synthesized in the cell are sorted via the secretory route. They shuffle between different compartments in membrane-bound vesicles until they reach their final destination. The main intracellular compartments involved...
5.6K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.8K
Epigenetic Regulation01:37

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
3.1K
Interactions Between Signaling Pathways01:19

Interactions Between Signaling Pathways

Signaling cascades usually lack linearity. Multiple pathways interact and regulate one another, allowing cells to integrate and respond to diverse environmental stimuli.
Convergence and divergence, and cross-talk between signaling pathways
Two distinct signaling pathways can converge on a single functional unit, which may either be a single protein or a complex of proteins. The response is either functionally distinct or synergistic between the two pathways but different from the response...
6.4K