Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model.

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.

• Authors: Fuzheng Guo, Peter Bannerman, Emily Mills Ko, Laird Miers, Jie Xu, Travis Burns, Shuo Li, Ernest Freeman, Jennifer A McDonough, David Pleasure
• Journal: Annals of neurology (Ann Neurol) Vol. 77 Issue 5 Pg. 884-8 (May 2015) ISSN: 1531-8249 [Electronic] United States
• PMID: 25712859 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2015 American Neurological Association.

Chemical References

• Aspartic Acid
• N-acetylaspartate

Topics

• Animals
• Aspartic Acid (analogs & derivatives, deficiency, genetics, metabolism)
• Canavan Disease (genetics, metabolism, prevention & control)
• Disease Models, Animal
• Female
• Male
• Mice
• Mice, Knockout