Dr. Rebecca Ahrens-Nicklas

Children’s Hospital of Philadelphia

The team has developed a mouse model of MSUD to examine psychiatric and learning differences commonly observed in those with MSUD. They have observed significant metabolic differences in the brain of a mouse model of MSUD where the biochemical defect is limited to the brain.  This model may help us understand what happens in the brains of patients treated with diet or liver transplantation. Although the mice only have limited behavioral differences, they can serve as an important biochemical model of chronic neurologic MSUD. The team is currently completing long-term brain recordings to see if they can identify abnormal electrical activity in this model.  In addition, they are examining the role of an important signaling pathway, mTOR, in the MSUD brain.

This project was supported by the Million Dollar Bike Ride, sponsored by the Orphan Disease Center at the University of Pennsylvania.