Faculty Mentor

Dr. Elaine Vanterpool

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Description

Gingival fibromatosis is a genetic disorder that affects cell proliferation of the gum tissue leading to excessive, benign growth of tissue in the mouth (1) . Like all genetic disorders this disease results from mutations in specific gene sequences responsible for proper protein expression (2). Geneticists are increasingly interested in studying the genes responsible for various diseases and the mutations that cause them (2). While significant study has been devoted to Gingival fibromatosis and the mutations that lead to it , there remains research to be done in alternate effects of various mutations in the genes responsible for the disease. One such gene is the REST 1 gene associated with neural development (4). Mutations in the gene have been associated with several diseases including Huntington’s, heart disease, and cancers (3). A variety of missense mutations can also occur within this gene and potentially lead to a range of effects on protein expression. Such mutations can be identified and studied for their potential pathogenicity, thus contributing to what is known about the REST 1 gene and its various mutation.

Publication Date

4-1-2025

City

Huntsville

Disciplines

Biology

Comments

Danielle Mills, Student Researcher

Analysis of REST gene Variants  Associated with Gingival Fibromatosis

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Biology Commons

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