Stephanie A. Schultz, et al. – Massachusetts General Hospital.
This study examined numerous variants of PSEN1 to determine why they exhibit stark differences in age-of-onset and disease severity in autosomal-dominant AD. The authors found that reductions in a variant’s ability to process APP into a shorter amyloid product in vitro correlate with worse disease outcomes. This positions agonists for PSEN1 as potentially beneficial in treating AD.
