Student Research - Biology

John Daniel

Project Title

Abstract: In the lab we study Machado Joseph Disease (MJD), a inherited neurodegenerative disease condition caused by an expansion of the CAG triplet in the ataxin three gene. These repeats in turn cause a long chain glutamine repeats to occur in the protein structure, causing the protein to become toxic to neurons resulting in the death of certain brain cells. In our lab we have a transgenic model in Drosophila melanogaster that expresses either the mutant, toxic form of MJD or the normal, non-toxic form. We are currently working on analysis of proteome, all the proteins produced by an organisms genetic material at a given time of the normal and disease states. We will determine the differences in protein expression using two-dimensional gel electrophoresis, a process which allows for the separation of large numbers of proteins using the properties of their isoelectric point and molecular mass. This separation will generate a spotting pattern on a gel membrane, for which each spot corresponds to an individual or small group of proteins. We will then compare the profiles of the diseased and non-diseased states looking for unique proteins expressed in either system. These unique spots will then be analyzed using the protein sequencing ability of the MALDI-TOF mass spectrometer. Obtaining a sequence of the protein will allow for its positive identification and will then allow for identification of its gene. We will then use the power of Drosophila genetics to determine how the identified gene maybe involved in the disease pathology opening up new avenues for genetic disease treatment and prevention of degeneration.

Authors	John Daniel
Mentor	Dr. John Warrick