Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?
Multiple sulphatase deficiency disease is an unusual autosomal recessive disorder characterised biochemically by a deficiency of several sulphohydrolase activities. The laboratory diagnosis of this combined neurological connective tissue disorder is made on the basis of decreased activities of the lysosomal enzymes, arylsulphatase A and arylsulphatase B and the microsomal enzyme, arylsulphatase C. The primary defect in this multi-enzyme deficiency has not been identified. Using immunological techniques to characterise further the residual activities of arylsulphatases A and B in the multiple sulphatase deficiency disease, we have examined the levels of cross-reaching material (CRM) to arylsulphatases A and B in cultured skin fibroblasts from controls and patients with multiple sulphatase deficiency, metachromatic leukodystrophy (deficiency of only arylsulphatase A activity) and Maroteaux-Lamy syndrome (deficiency of only arylsulphatase B activity). We report here results indicating that arylsulphatases A and B in multiple sulphatase deficiency are reduced in their levels of CRM while retaining a normal activity/CRM ratio. Because the two enzymes are apparently structurally unrelated, these data are consistent with the possibility that their combined deficiencies in this disorder may result from a defect in the coordinated expression of sulphohydrolases.
D001192:Arylsulfatases / Q000172:deficiency* / Q000235:genetics / Q000276:immunology; D002478:Cells, Cultured; D003429:Cross Reactions; D005809:Genes, Regulator; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology* / Q000235:genetics; D009083:Mucopolysaccharidoses / Q000201:enzymology*; D009087:Mucopolysaccharidosis VI / Q000201:enzymology* / Q000235:genetics; D013429:Sulfatases / Q000172:deficiency*
D013429:Sulfatases; D001192:Arylsulfatases