Off-campus University of Richmond users: To download campus access theses, please use the following link to log in to our proxy server with your university username and password.
Date of Award
Restricted Thesis: Campus only access
Bachelor of Science
Dr. John Warrick
Polyglutamine diseases are lethal neurodegenerative diseases caused by dominantly inherited polyglutamine repeat mutations. These diseases cause progressive degeneration of specific brain regions through complex which are not well understood, and there is currently no cure or effective therapy to treat these diseases. There are nine known polyglutamine diseases: Huntington's disease, spinocerebellar ataxias (SCAs 1, 2, 6, 7, 17 and SCA3/MJD) (9,10,11) (Table 1). Although these diseases share a common mutation, they have few other similarities. The disease symptoms, brain regions affected, and length of repeats needed to cause pathogenesis depend on which host gene contains the polyglutamine mutation, leading to variation in disease symptoms (Table 1). The host proteins for polyglutamine mutations do not seem to share functional similarities, out of the proteins with known functions, or structural similarities, except for the glutamine repeat sequence, and cause degeneration in different subsets of neurons (3,11).
Pearcy, Rachel, "Effects of altered regulation of synaptotagmin 1 in a Drosophila model of Machado-Joesph disease" (2015). Honors Theses. 923.