Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7712
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Type: Journal article
Title: Purification and characterization of recombinant murine sulfamidase
Author: Gliddon, B.
Yogalingam, G.
Hopwood, J.
Citation: Molecular Genetics and Metabolism, 2004; 83(3):239-245
Publisher: Academic Press Inc Elsevier Science
Issue Date: 2004
ISSN: 1096-7192
1096-7206
Abstract: Mucopolysaccharidosis type IIIA (MPS IIIA) is a lysosomal storage disorder caused by a deficiency in the lysosomal enzyme sulfamidase, which is required for the degradation of heparan sulfate. The disease is characterized by neurological dysfunction but relatively mild somatic manifestations. A naturally occurring mouse model to MPS IIIA exhibits a similar disease progression to that observed in patients. Disease in the mice results from a base substitution at codon 31 in the sulfamidase gene, altering an aspartic acid to an asparagine (D31N). This aspartic 31 is involved in binding of the divalent metal ion needed for catalytic function, and as such reduces the specific activity of the enzyme to about 3% of that of wild-type. The mutant protein has decreased stability and shows increased degradation over a 24 h chase period when compared to wild-type mouse sulfamidase. Mouse sulfamidase that was purified using a two-step ion exchange procedure was shown to have similar kinetic properties to that of purified human sulfamidase. Recombinant murine sulfamidase was able to correct the storage phenotype of MPS IIIA fibroblasts after endocytosis via the mannose-6-phosphate receptor.
Keywords: CHO Cells; Fibroblasts; Animals; Cricetulus; Mice; Mucopolysaccharidosis III; Disease Models, Animal; Hydrolases; Receptor, IGF Type 2; Recombinant Proteins; Staining and Labeling; Immunoprecipitation; Kinetics; Mutation, Missense; Cricetinae
RMID: 0020041133
DOI: 10.1016/j.ymgme.2004.07.016
Appears in Collections:Paediatrics publications

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