Faculty Mentor

Dr. Elaine Vanterpool

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Description

Celiac disease is a disease that restricts what people can eat. When the body overreacts to gluten it damages the tiny, hairlike projections, called villi, that line the small intestine. This affects millions of Americans. In this study, we search for the genes that affect this disease and why. In this study, we will be using SIFT, simple clinvar, and SIFT. First, we will use simple clinvar. Using this tool we find the gene that is being affected which is gene MY09B. After using SIFT to determine variant pathogenicity and the potential to impact protein function we found that the genes affected are CTLA4 are MY09B. Variants of this gene were then investigated. After further investigation 4 missense variants were detected in gene MY09B. There were 5 detected in gene CTLA4. Using PolyPhen-2 and SIFT some of the variants were predicted to be pathogenic and potentially damaging to the protein. The variants Arg1621Trp and Arg502Gln were predicted to be pathogenic for gene MY09B. Data from this study suggests that the mutations in MY09B tend to overreact and damage the protein. These are the genes that cause celiac disease

Publication Date

4-1-2025

City

Huntsville

Disciplines

Biology

Comments

Blake Woode, Student Researcher

MY09B AND CTLA4 EFFECTS ON CELIAC DISEASE

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Biology Commons

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