JSU Student Symposium 2022

Impact of L282R on PSEN1 Phenotype


Impact of L282R on PSEN1 Phenotype



Faculty Mentor

Jenna Ridlen, Biology


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2:45-2:55pm | Houston Cole Library, 11th Floor


Alzheimer’s Disease (AD) is a type of dementia, usually affecting the memory, thinking, and behavior of individuals over the age of 65. The average life span after diagnosis is 4 to 8 years, but some can live as long as 20 years after diagnosis. During the COVID-19 pandemic, death related to Alzheimer’s and Dementia increased 16%. For our research, we were interested in the role of genetics in this disease. While most Alzheimer’s disease is not usually inherited, in previous studies most patients who developed early-onset AD possessed specific genes or gene variants that were inherited. Our research focused on the mutations in the PSEN1 gene, which codes for the Presenilin-1 protein. Presenilin-1 forms the catalytic subunit of the gamma secretase complex whose primary function is the proteolytic cleavage of the amyloid protein from the Amyloid Precursor Protein (APP). Pathogenic mutations in the PSEN1 gene often lead to an accumulation of the longer, more hydrophobic version of the Amyloid-β peptide. These accumulations are thought to cause the plaques found in the brains of patients with Alzheimer’s, leading to cerebral atrophy. We examined a PSEN1 variant of unknown significance (VUS), a missense mutation which resulted in amino acid substitution from leucine to arginine at position 282. We used YASARA protein mapping to analyze the features of this variation and completed Polyphen2 analysis to assess its pathogenicity. These will be presented along with cross species multiple sequence alignment and other variant analysis.


student research, biology


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Impact of L282R on PSEN1 Phenotype