Immunofluorescence staining and immunological studies of arylsulphatase A of multiple sulphatase deficiency (MSD) and metachromatic leukodystrophy (MLD) fibroblasts.
Multiple sulphatase deficiency (MSD) and metachromatic leukodystrophy (MLD) are both characterized by a deficiency of arylsulphatase A (ARS A) activity, although they are inherited as separate autosomal recessive traits. However, it has been found that the immunologically active substance with anti-ARS A antibody is present in quite normal levels in MLD and in smaller quantities in MSD fibroblasts (Fiddler, 1979). Indirect immunofluorescence staining with anti-ARS A antibody displayed a coarse granular and diffuse distribution of ARS A or cross-reacting material (CRM) in the normal control and MLD fibroblasts, whereas very weak fluorescence staining was observed in MSD fibroblasts proportional to the decrease in the ARS A activity observed in the lysate enzyme assay. These results suggest that ARS A deficiency in MLD cells is due to an enzymatically deficient ARS A molecule, which is immunologically cross-reactive with anti-normal ARS A antibody. ARS A deficiency in MSD cells appears to be due to a reduced amount of normal ARS A.
D000906:Antibodies / Q000032:analysis; D001192:Arylsulfatases / Q000172:deficiency*; D002478:Cells, Cultured; D002553:Cerebroside-Sulfatase / Q000172:deficiency / Q000276:immunology*; D002869:Chromosome Aberrations / Q000201:enzymology*; D025063:Chromosome Disorders; D005347:Fibroblasts / Q000201:enzymology; D005455:Fluorescent Antibody Technique; D006801:Humans; D005779:Immunodiffusion; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000276:immunology*; D012867:Skin / Q000201:enzymology; D013429:Sulfatases / Q000172:deficiency* / Q000276:immunology*
D000906:Antibodies; D013429:Sulfatases; D001192:Arylsulfatases; D002553:Cerebroside-Sulfatase