Rita Sattler, PhD
Mechanisms of GluA2 editing deficiencies in C9orf72
The goal of this proposal is to study cellular and molecular mechanisms of disease pathogenesis induced by the novel C9orf72 mutation found to be highly prevalent in ALS patients. In specific, we aim to test the hypothesis that mutations in the C9orf72 gene lead to significant changes in the cellular structure of fine projections of neurons, so called axons and dendrites, which are important for the transmission of information from one cell to another. Preliminary data from our laboratory suggest that there is a structural rearrangement of the dendritic synapse, a specialized structure along those neuronal processes where cell to cell information exchange occurs, but also where memories are formed and lost, as is the case during cognitive impairment, which is frequently observed in C9orf72 ALS patients.
Note: Funding for this project is made possible by Ride For Life