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Huntington's disease (HD) is a genetic, neurodegenerative disease that effects about 30,000 people in the United States. Patients diagnosed with Huntington's experience involuntary movements (chorea), psychiatric disturbances and cognitive decline. HD is caused by a CAG repeat expansion within the huntingtin gene that results in a polyglutamine expansion within the encoded protein. The normal htt gene contains less than 35 CAG repeats. Expansion of CAG repeats beyond this gives rise to HD with close to 100% genetic penetrance. The disease process targets primarily the cerebral cortex and neostriatum where there is degeneration and loss of neurons. Research efforts by many groups over the last several years has led to tremendous advances in understanding HD pathogenesis. This new understanding is helping to advance the development of therapies to treat HD.
One of the primary projects in my lab is the study the impact of dietary iron on progression of HD. This collaborative project explores mechanisms of brain iron homeostasis dysregulation in HD models. Appropriate manipulation of brain iron could provide therapeutic benefit in HD. We have published data demonstrating that neonatal administration of iron exacerbates HD symptoms and are currently completing studies to elucidate the mechanism underlying this finding.
We are involved in a collaboration with Dr. Jason Gigley, an immunologist in the Department
of Molecular Biology at the University of Wyoming. The goal of this collaboration
is to study the role of the immune system, and specifically neuroinflammation, on
HD processes. One aspect of this project is to study the impact of chronic infection
by the parasite, Toxoplasma
We are also interested in how other environmental factors, such as selenium, influence HD. In addition, we use mouse models of HD and it is important to fully understand and characterize these models. Some of our work has contributed to understanding these mouse models.
1R56NS097813-01A1: Environmental and Mutant Huntingtin-mediated Upregulation of Indoleamine-2,3-dioxygenase in Huntington's Disease Pathogenesis
5R01NS079450-02: Defining the role of brain iron dysregulation in Huntington's disease
5P30GM103398-03: Interaction between neuroinflammation and neurodegeneration using latent Toxoplasma
5R21NS072372-02: Oxidation-dependent mutant huntingtin oligomers and Huntington's disease pathogenesis
5P20RR015640-10: Neuronal Iron in Huntington's Disease
Neuroanatomy for medical students, WWAMI program
Diseases of Food Animals and Horses