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Nat Genet. 1993 Oct;5(2):118-23.

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.

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1
Research Institute, Miami Children's Hospital, Florida 33155.

Abstract

Canavan disease, an autosomal recessive leukodystrophy, is caused by deficiency of aspartoacylase and accumulation of N-acetylaspartic acid in brain. We have cloned the human aspartoacylase (ASP) cDNA spanning 1,435 basepairs, and show that the isolated cDNA expresses aspartoacylase activity in bacteria. Furthermore, an A to C base change, at nucleotide 854, has been found in 85% of the 34 Canavan alleles tested so far. This base change results in a missense Glu285Ala mutation that is predicted to be part of the catalytic domain of aspartoacylase. The data suggest that the catalytic centre of aspartoacylase involves a triad of Ser, His and Glu residues. Our findings have implications for diagnosis and screening of Canavan disease.

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PMID:
8252036
DOI:
10.1038/ng1093-118
[Indexed for MEDLINE]
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