Faculty Mentor

Dr. Elaine Vanterpool

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Description

Alzheimer’s is the 7 th most common cause for death in humans and unfortunately has no cure. Coincidentally the gene MAPT (microtubule-associated protein tau) increases chances of obtaining Alzheimer's. The purpose of this study is to discover the mutation that resides within this gene. A website database called Simple Clinvar was used to generate information concerning Alzheimer’s disease and the different genetic variants associated with the disease. The SIFT algorithm was used to show whether the changes in amino acid sequences of the MAPT gene can affect protein function. PolyPhen was another prediction algorithm used to predict the influence that amino acid substitutions have on the expression and function of proteins. The MAPT gene (Microtubule Associated Protein Tau) provides instructions for making a protein called tau, which plays a crucial role in stabilizing microtubules structures that help maintain cell shape and enable intracellular transport, especially in neurons. The MAPT gene belongs to the MAP superfamily, which includes proteins that regulate microtubule dynamics, stability, and interactions within the cell, particularly in neurons. The MAPT gene regulates intracellular transport, specifically transport in neurons. It primarily influences the movement of cellular cargo along microtubules, which act as highways for transporting proteins, organelles. The conserved domains occur on the 1- 449 interval. The Arg5Leu mutation was predicted to be probably damaging with a PolyPhen score of 0.663/1.0. The Arg5His mutation was predicted to be possibly damaging, with a PolyPhen score of 0.944/1.0. The MAPT gene is associated with several neurodegenerative diseases, collectively known as tauopathies, where abnormal tau protein aggregation leads to neuronal dysfunction and death. The expression of these mutations has been linked to a higher risk of developing Alzheimer’s disease.

Publication Date

2025

City

Huntsville

Disciplines

Biology

Analysis of MAPT on Alzheimer’s Disease

Included in

Biology Commons

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