Related Experiment Video

Updated: Jul 7, 2026

Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model

Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model

Published on: March 5, 2022

Polymorphism in postinsulin receptor signaling pathway is not associated with polycystic ovary syndrome

Michelle R Jones¹, Scott G Wilson, Ben H Mullin

¹Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, University of Western Australia, Nedlands, , Australia.

Fertility and Sterility

|February 6, 2008

Abstract

Objective:

To investigate polymorphisms in postinsulin receptor signaling. To investigate PIK3R1, SLC2A4, SLC2A4RG, and MEF2A to determine whether these genes are associated with susceptibility to polycystic ovary syndrome (PCOS) or key phenotypic features of insulin resistance in subjects with PCOS.

Design:

Case-control study.

Setting:

Participants with PCOS were recruited from a clinical practice database, and controls from the general community.

Patient(S):

One hundred seventy-three patients with PCOS conforming to the National Institutes of Health (NIH) diagnostic criteria, all of Caucasian descent; 107 normally ovulating women of white descent from the general community.

Intervention(S):

Drawing of blood for DNA extraction.

Main Outcome Measure(S):

Frequency of PIK3R1, SLC2A4, SLC2A4RG, and MEF2A polymorphisms in case and control subjects.

Result(S):

No significant difference between the frequency of the polymorphisms in case and control women was identified. No single nucleotide polymorphism studied in any of these four genes was associated with the PCOS phenotype.

Conclusion(S):

Polymorphisms in the PIK3R1, SLC2A4, SLC2A4RG, and MEF2A genes are not associated with key PCOS phenotypes.

More Related Videos

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome

Published on: October 2, 2018

A Modified Technique for Inducing Polycystic Ovary Syndrome in Mice

A Modified Technique for Inducing Polycystic Ovary Syndrome in Mice

Published on: July 5, 2024

Related Concept Videos

Insulin: The Receptor and Signaling Pathways

Insulin: The Receptor and Signaling Pathways

Insulin action is mediated through a receptor tyrosine kinase, akin to the IGF-1 receptor. The number of receptors per cell varies significantly, from 40 on erythrocytes to 300,000 on adipocytes and hepatocytes. The insulin receptor consists of linked α/β subunit dimers, forming a heterotetramer glycoprotein with two extracellular α subunits and two β subunits spanning the membrane. The α subunits inhibit the inherent tyrosine kinase activity of the β subunits, but this inhibition is released...

Type I Diabetes II: Pathophysiology

Type I Diabetes II: Pathophysiology

Type 1 diabetes mellitus arises from an immune-mediated destruction of pancreatic β-cells, resulting in an absolute deficiency of insulin. This process develops in genetically susceptible individuals when autoimmunity, environmental exposures, and immunologic dysregulation converge to trigger a targeted attack on the insulin-producing cells of the pancreas. The β-cells are located within the islets of Langerhans and are essential for regulating blood glucose by facilitating cellular uptake of...

Type II Diabetes II: Pathophysiology

Type II Diabetes II: Pathophysiology

PathophysiologyType 2 diabetes mellitus (T2DM ) is a chronic metabolic disorder characterized by insulin resistance and progressive pancreatic β-cell dysfunction, leading to impaired glucose homeostasis. It results from interactions among genetic predisposition, environmental factors, and metabolic stressors, such as overnutrition and a sedentary lifestyle.Insulin Resistance and Glucose DysregulationEarly T2DM involves insulin resistance in skeletal muscle, adipose tissue, and the liver.

Type II Diabetes I: Introduction

Type II Diabetes I: Introduction

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance, in which target tissues such as the liver, muscle, and adipose tissue respond poorly to insulin. It is also associated with inadequate compensatory insulin secretion, where pancreatic β-cells fail to produce sufficient insulin. Together, these abnormalities lead to persistent hyperglycemia.EtiologyT2DM develops through a complex interaction of genetic predisposition and environmental or...

Glucose Homeostasis: Pancreatic Islets and Insulin Secretion

Glucose Homeostasis: Pancreatic Islets and Insulin Secretion

The pancreatic islets comprising only 1%-2% of the volume are highly vascularized and innervated mini-organs. They contain five endocrine cell types, including β cells that secrete insulin, which is synthesized as a single polypeptide chain, preproinsulin, processed to proinsulin, and finally to insulin and C-peptide. This process is complex and regulated, involving the Golgi complex, the endoplasmic reticulum, and the secretory granules of the β cell.
Insulin and C-peptide are co-secreted in...

Hormones Regulating Blood Glucose

Hormones Regulating Blood Glucose

Insulin is released by beta cells of the pancreas when blood glucose levels are high. It facilitates glucose absorption and utilization in insulin-dependent cells with insulin receptors on their plasma membranes. Insulin promotes glucose uptake by increasing the number of glucose transport proteins in the cell membrane, allowing glucose to enter the cell. As a result, glucose utilization and ATP production are enhanced.
In addition to accelerating glucose uptake and utilization, insulin has...

Articles linked to this work by shared authors, journal, and citation graph.

Medication-related osteonecrosis of the external auditory canal and treatment with teriparatide.

JCEM case reports·2026

Proteome-wide Mendelian randomisation of lung function to identify potential therapeutic targets for respiratory disease.

ERJ open research·2026

Functional assessment of a constitutively activating CASR variant causing autosomal dominant hypocalcemia.

Journal of the Endocrine Society·2026

Effect of Testosterone Treatment on Leucocyte Telomere Length in Men: Results From a Randomised Placebo-Controlled Trial.

Andrology·2026

Risk factors and coronary events: attenuation of the association in secondary prevention.

European heart journal·2026

Evidence of a Protective Effect of Metformin on Abdominal Aortic Aneurysm Risk: Insights From an Observational Study and Mendelian Randomisation Analysis Using Putative Metformin Targets.

Annals of human genetics·2026

See all related articles