Faculty Mentor

Dr. Elaine Vanterpool

Download

Download Full Text (1.1 MB)

Description

Irritable Bowel Syndrome is a disease associated with the gastrointestinal tract that can cause abdominal discomfort, bloating, and alterations in the digestive tract. Its etiology remains complex, involving both genetic and environmental factors. Recent studies suggest that genetic variations may contribute to the pathogenesis of IBS. One such gene, the EED (Embryonic Ectoderm Development) gene, has been implicated in regulating various biological processes, including gene expression, cellular development, and gastrointestinal functions. In this research, we explore the potential relationship between the EED gene and IBS, with a focus on the variation rs798256, documented in the ClinVar database. We examine how this gene variation might influence IBS development, highlighting the importance of genetic research in understanding IBS's pathophysiology. IBS symptoms include chronic abdominal pain, bloating, diarrhea, and constipation, with no clear underlying organic cause. The pathophysiology of IBS remains elusive, though several mechanisms are believed to contribute, such as gastrointestinal motility dysfunction, visceral hypersensitivity, and alterations in the gut microbiota. Genetic factors are thought to play a role, with multiple studies suggesting that IBS may have a hereditary component. The EED gene, which is located on chromosome 11, encodes a protein involved in the regulation of gene expression during development and differentiation. While its primary functions have been associated with embryonic development and neural differentiation, recent evidence suggests that EED may also play a role in gastrointestinal function. In this paper, we will focus on a particular variation within the EED gene, rs798256, and discuss its potential link to IBS. The EED gene encodes a protein that is part of the Polycomb Repressive Complex 2 (PRC2), a key regulator of gene silencing during cellular differentiation. This complex plays a crucial role in maintaining gene expression patterns, which are essential for proper development and differentiation of various cell types. The variation rs798256, as documented in the ClinVar database, may influence the gene's function and contribute to gastrointestinal dysfunction in IBS patients. The investigation of genetic variants like rs798256 could provide valuable insights into the complex interactions that contribute to IBS pathogenesis.

Publication Date

4-1-2025

City

Huntsville

Disciplines

Biology

Comments

Ted Howard, Student Researcher

EED Gene Variants and Irritable Bowel Syndrome: A Genetic Approach to Understanding IBS

Included in

Biology Commons

Share

 
COinS