James Mastrianni, M.D., Ph.D.

APPOINTMENTS

  • Assistant Professor, Department of Neurobiology,¬†Committee on Microbiology

EDUCATION

Ph.D., University of North Carolina, Greenville

M.D., McGill University

B.S., Union University, College of Pharmacy

CONTACT INFORMATION

The University of Chicago
AMB S233, (MC2030)
5841 South Maryland Avenue
Chicago, Illinois 60637

jmastria@uchicago.edu

Phone:  (773) 834-3470

RESEARCH SUMMARY

My laboratory's research is aimed at understanding the prion diseases. Perhaps best known as the cause of Mad Cow Disease, prions also cause several other brain disorders, including Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker disease, fatal insomnia, and chronic wasting disease of deer and elk. These unusual disorders have many similarities with neurodegenerative diseases, as they cause progressive neurological symptoms of dementia and motor abnormalities, but they differ in that they carry the property of infectivity. The infectious agent of these diseases is an unconventional agent, called a prion, which is thought to be composed entirely of protein. The protein that constitutes the prion is the prion protein, a host-encoded, predominantly brain-derived protein. The prion protein becomes infectious by that has become misfolded. This protein is a naturally-occurring brain-derived protein that undergoes a conformational change, resulting in the generation of an infectious protein that binds to and converts other normal prion proteins to prions. My lab is investigating several aspects of prions and prion disease, including what segments of the protein are critical to the process of prion propagation and conformational conversion, how specific mutations of the protein that are associated with familial prion disease produce prions, how different strains or phenotypes of prion disease are determined by the prion, how prions kill cells, and what other proteins may partner with prion protein to cause or modify prion disease. A variety of experimental approaches are utilized from cell culture, transgenic mouse models, yeast models, and organotypic brain slice preparations, in order to better understand these enigmatic diseases. Our findings will help clarify how brain neurons die in prion diseases as well as other neurodegenerative diseases, such as Alzheimers disease and ALS.

Research Papers in PubMed