Mutations in the MMP20 Gene in Association with Amelogenesis Imperfecta

Authors

Elaine Vanterpool, Oakwood University
Alicia Broomfield-Myrie, Oakwood University

Faculty Mentor

Dr. Elaine Vanterpool

Files

Description

Enamel, the hardest substance in the body, protects the teeth from various forces like temperature and physical factors that would cause damage. Depending on the kind of AI one has developed, the phenotypes can range from thin teeth to teeth discoloration or decay. MMP20, a gene commonly associated with AI, encodes for Enamelysin, a protein crucial for enamel formation. It is also known as matrix metallopeptidase 20. It becomes active when it is cleaved by cellular proteases. When this gene is mutated, the splicing pattern is altered. Consequently, this can cause disease. This study was developed to analyze the pathogenicity of the mutated MMP20 variants associated with AI.

Publication Date

2025

City

Huntsville

Disciplines

Biology

Recommended Citation

Vanterpool, Elaine and Broomfield-Myrie, Alicia, "Mutations in the MMP20 Gene in Association with Amelogenesis Imperfecta" (2025). Student Posters. 99.
https://ouscholars.oakwood.edu/student-posters/99