Presenter
Julianna Dufresne
Document Type
Poster
Publication Date
2026
Abstract
Located on chromosome 20, the prion protein gene (prnp) is responsible for neuronal health and supporting healthy brain function. Missense mutations in specific areas of the gene, however, result in an abnormally folded protein, referred to as a prion. When the abnormally folded version of the prion protein comes into contact with normally folded proteins in the brain, it causes the regular protein to misfold, creating a cascade effect. The neurodegenerative disorders that result from mutated PRNP present similarly, but are distinguished from each other by where exactly in the gene the mutation occurred. Creutzfeldt-Jakob Disease is one of the most common forms of prion disease, and is associated with missense mutations in nine specific amino acids. Sporadic Creutzfeldt-Jakob Disease (sCJD) is the most common form, and, as the name suggests, seems to arise randomly. Individuals who suffer from sCJD have no family history of similar neurodegenerative disorders and have no known exposure to contaminated meat that could account for an infectious prion disease. There is currently no treatment or cure for sCJD or any other prion disease, and it is always fatal. The disease most often presents in middle-aged individuals, who exhibit a sudden decline in mental acuity and rapidly progressive dementia. This project provided a comprehensive analysis of prnp and sCJD, about the gene itself, the disease process, and how the field of epigenetics is advancing diagnostics.
Faculty Mentor
Kristin Rosler, Ph.D.
Academic Discipline
College of Arts & Sciences
Repository Citation
Dufresne, Julianna, "The Genetic Role of PRNP" (2026). Student Research Design & Innovation Symposium. 272.
https://scholarsarchive.jwu.edu/innov_symposium/272
