Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 25712859.
- Also identified by DOI 10.1002/ana.24392 and PMC identifier 11131957.
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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.
Medical subject headings
- Aspartic Acid
- Canavan Disease
- Disease Models, Animal