JSU Student Symposium 2022

Date

2-15-2022

Faculty Mentor

Ashley Turner, Biology

Files

Download

Download Full Text (617 KB)

Submission Type

Poster

Location

1:30-1:40pm | Houston Cole Library, 11th Floor

Description

Type 2 diabetes is a complex metabolic disorder with interactions between genetic and environmental factors, making it more complicated to understand the clinical implications of identified genetic variants and disease pathology. Many of the diabetes-associated variants are currently classified as VUS and occur within the genes involved in insulin signaling and regulation, so we turned our focus on the human INSR gene. INSR encodes the insulin receptor protein that plays a major role in insulin signaling. Furthermore, C. elegans provides a simple model system to examine the functional consequences of these diabetes-associated VUS. We examined INSR diabetes-associated VUS through the orthologous C. elegans gene daf-2. Preliminary genetic and evolutionary conservation analyses suggest functional impact for some of these VUS with the potential to impact protein structure and function. Further bioinformatic analysis of pathogenicity predictions supported the conservation we observed across species. I chose the most interesting VUS c.1628C>T (p.Thr543Met) to move forward with based on its genetic loci, level of evolutionary conservation, and predicted pathogenicity. These provided support for further in vivo studies. Next, we designed and tested primers to amplify the VUS region within daf-2. We are currently working to optimize this polymerase chain reaction-based genotyping assay to assess CRISPR-Cas9-engineered C. elegans models containing the VUS. Our goal is to assess the functional impact of the VUS on the daf-2 gene in vivo through phenotyping the mutant C. elegans VUS model. Studies such as this help us to begin to understand the functional impact of identified genetic variants in diabetes patients, paving the way for personalized medicine.

Keywords

student research, biology

Rights

This content is the property of Jacksonville State University and is intended for non-commercial use. Video and images may be copied for personal use, research, teaching or any "fair use" as defined by copyright law. Users are asked to acknowledge Jacksonville State University. For more information, please contact digitalcommons@jsu.edu.

Disciplines

Biology

Diving into the Unknown: A Genetic Investigation of Type-2 Diabetes-associated INSR Variants of Uncertain Significance

Included in

Biology Commons

Share

COinS