How Single Nucleotide Polymorphisms (SNPs) in Apolipoprotein (APOE) Impact Alzheimer’s Disease (AD) Pathology
Presented By Katherine Wei, BASIS High School, Chandler, Arizona
Alzheimer’s Disease (AD) is a neurodegenerative disease caused by beta-amyloid plaques that build up in the brain as well as tau protein which form tangles around brain cells. Currently, there is no cure for AD but there are some therapeutic treatments to slow down the process. Apolipoprotein E (APOE) is a protein that has been associated with Alzheimer’s and cardiovascular diseases because of its role in metabolism of fats in the body. This experiment will use several different databases in order to analyze the effects of single nucleotide polymorphisms (SNP) in the function of the APOE gene. Specifically, analysis of structure and function of different SNPs that may lead to changes in the gene will be conducted and comparisons between the expression of the APOE4 gene and cognitive impairment will be evaluated to determine their relationship. Using datasets that have the frequency of patients who suffer from AD as well as SNPs that are present in the patient’s genes, visualizations and graphs will be drawn to evaluate the relationship between SNPs and AD. Common SNPs in the APOE gene that may induce late-onset Alzheimer’s Disease (LOAD) are rs7412, rs429358, and rs769455. The purpose of this research is to understand how these SNPs in APOE correlate to Alzheimer’s Disease and how they may play a role in the production of beta-amyloid plaques. Understanding these concepts is fundamental in getting a better grasp of the functionality of the APOE4 gene in Alzheimer’s and possibilities in new therapeutic treatments.