Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model
Fuzheng Guo1, Peter Bannerman, Emily Mills Ko
1Institute for Pediatric Regenerative Medicine, University of California, Davis School of Medicine and Shriners Hospitals for Children Northern California, Sacramento, CA.
Annals of Neurology
|February 26, 2015
Abstract:
Canavan disease is caused by inactivating ASPA (aspartoacylase) mutations that prevent cleavage of N-acetyl-L-aspartate (NAA), resulting in marked elevations in central nervous system (CNS) NAA and progressively worsening leukodystrophy. We now report that ablating NAA synthesis by constitutive genetic disruption of Nat8l (N-acetyltransferase-8 like) permits normal CNS myelination and prevents leukodystrophy in a murine Canavan disease model.
