Analysis of Cys294Arg Mutation in CS1 Associated with Periodontal Ehlers-Danlos Syndrome & Collagen Degradation

Authors

Elaine Vanterpool, Oakwood University
Amy Aboki, Oakwood University

Faculty Mentor

Dr. Elaine Vanterpool

Files

Description

C1s enzyme plays a crucial role in the immune system so that the body can fight infection and repair damaged tissues. However, if it is not working properly, it will do more harm than good. This is shown in the case of periodontal Ehlers-Danlos syndrome (pEDS), a rare genetic disorder whereby C1s breaks down collagen I, a protein that gives structure and strength to connective tissues. Severe gum disease, loose teeth and premature teeth is a result of this. The purpose of this study is to identify and analyze the pathogenicity of C1s mutations and association in pEDS.

Publication Date

2025

City

Huntsville

Disciplines

Biology

Recommended Citation

Vanterpool, Elaine and Aboki, Amy, "Analysis of Cys294Arg Mutation in CS1 Associated with Periodontal Ehlers-Danlos Syndrome & Collagen Degradation" (2025). Student Posters. 122.
https://ouscholars.oakwood.edu/student-posters/122