CTSC gene Correlation with Dental Disease Periodontitis

Authors

Elaine Vanterpool, Oakwood University
Misiel Garcia, Oakwood University

Faculty Mentor

Dr. Elaine Vanterpool

Files

Description

Periodontitis is a dental disease that affects the tissue surrounding the tooth structure, originates from the gum tissue or oral cavity that is left untreated resulting in the penetration of bacteria causing gum bleeding and swelling, also alters the bone homeostasis causing tooth loss, and affects the overall health of the patient. There are not many genetic analysis studies associated with periodontitis. To evaluate potential variants associated with periodontitis, simple ClinVar identified CTSC as a gene associated with periodontitis. It is located on locus 11q14.2. Its variants were also identified. The pathogenicity of the missense variants was further analyzed. SIFT computational tool predicts the mutation Q286R impact protein function and PolyPhen2 analysis predicts the mutation to be damaging to the protein. Previous studies have demonstrated the role of cathepsin C in the pathogenesis of periodontitis, with mutations in the gene associated with rare syndromes that affect the tissues. Further studies are needed to understand the exact mechanism of how these mutations contribute to pathogenesis. This study contributes to the genetic research of periodontitis, specifically by identifying and analyzing CTSC gene variants and their potential impact on protein function.

Publication Date

2025

City

Huntsville

Disciplines

Biology

Recommended Citation

Vanterpool, Elaine and Garcia, Misiel, "CTSC gene Correlation with Dental Disease Periodontitis" (2025). Student Posters. 66.
https://ouscholars.oakwood.edu/student-posters/66