Journal of Undergraduate Research


genetic variants, Alzheimer's disease, TTC3


Life Sciences




Alzheimer’s is a neurodegenerative disease caused by the formation of amyloid plaques and neurofibrillary tangles. Most current research on Alzheimer’s disease has focused on using genome-wide association studies to identify common genetic variants however; past research has shown that rare genetic variants play an important role in the development of Alzheimer’s disease. For example, studies have shown that rare genetic variants in APP, PSEN1, and PSEN2 drastically increase an individual’s risk for Alzheimer’s disease (Tanzi). My research focused on specific rare genetic variant in the TTC3 gene (S1966X). This rare variant has a point mutation that causes a premature stop codon. This stop codon would result in a malfunctioning E3 ubiquitin-protein ligase. Since E3 ubiquitin plays an essential role in the degradation of APP, a non-functioning E3 ubiquitin protein would cause an excess of APP and therefore lead to the development of beta-amyloid plaques (Wantabe). The results were null for my hypothesis that individuals carrying this variant have an increased risk of developing Alzheimer’s disease.

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