Validation of alpha1-NaKA inhibition as a novel therapeutic strategy for the mouse model of Angelman syndrome

$200,000 (2 years)

At approximately two weeks of age in a proven AS mouse model, there is an increase in the expression and subsequent activity of a specific molecule prior to other molecules in the AS brain, which results in deficits in the part of the brain that controls learning and memory. Interestingly, the increased expression or activity of that particular molecule was reported in other autistic spectrum disorders as well.

This research project seeks to determine if a specific drug that reduces the activity of that specific molecule will rescue the cognitive phenotype and decrease the deficits in learning and memory. In doing so, the research team will be able to answer questions for future research about why the increased activity of that molecule creates AS symptoms, and why decreasing the activity reverses AS symptoms. This research will help the AS research community determine the best medications to help improve learning and memory.