Premium
Ablating N ‐acetylaspartate prevents leukodystrophy in a C anavan disease model
Author(s) -
Guo Fuzheng,
Bannerman Peter,
Mills Ko Emily,
Miers Laird,
Xu Jie,
Burns Travis,
Li Shuo,
Freeman Ernest,
McDonough Jennifer A.,
Pleasure David
Publication year - 2015
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.24392
Subject(s) - leukodystrophy , krabbe disease , central nervous system , disease , biology , medicine , chemistry , neuroscience
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. Ann Neurol 2015;77:884–888