Journal of Undergraduate Research
Keywords
rare genetic variants, Alzheimer's Disease, AD, neurodegenerative disorder
College
Life Sciences
Department
Biology
Abstract
Alzheimer’s disease (AD) is a fatal neurodegenerative disorder and is the leading cause of dementia.1,3 It is the sixth leading cause of death in the United States and is the only one that has no adequate prevention or cure. AD is characterized by a progressive loss in cognitive function and memory loss. Neuropathological symptoms include loss of neurons and synapses, extensive accumulation of amyloid plaques and neurofibrillary tangles. Alzheimer’s disease has been identified as a proteopathy disease due to the extensive accumulation of amyloid plaques and neurofibrillary tangles.1,2,3 This project focused on the research of a rare genetic variant in the PLD3 gene, namely, rs145999145, which shows increased risk factors for AD. In collaboration with Genetech and multiple other organizations, we performed single-nucleotide polymorphism (SNP) genotyping and analysis on thousands of DNA samples from the Cache County Study on Memory Health and Aging. Our results supported the hypothesis that rs145999145 played a large role in the development of AD. The results of our study and the results of our collaborators were published in Nature in December 2013.
Recommended Citation
Schmutz, Cameron and Kauwe, Dr. Keoni
(2014)
"Association of Rare Genetic Variants to the Development and Progression of Alzheimer’s Disease,"
Journal of Undergraduate Research: Vol. 2014:
Iss.
1, Article 714.
Available at:
https://scholarsarchive.byu.edu/jur/vol2014/iss1/714