Immunofluorescence staining and immunological studies of arylsulphatase A of multiple sulphatase deficiency (MSD) and metachromatic leukodystrophy (MLD) fibroblasts.

Abstract

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.

• Authors: A Tanaka, S Higami, G Isshiki, T Matsumoto, M Furusawa
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 6 Issue 1 Pg. 21-6 ( 1983) ISSN: 0141-8955 [Print] United States
• PMID: 6134864 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Antibodies
• Sulfatases
• Arylsulfatases
• Cerebroside-Sulfatase

Topics

• Antibodies (analysis)
• Arylsulfatases (deficiency)
• Cells, Cultured
• Cerebroside-Sulfatase (deficiency, immunology)
• Chromosome Aberrations (enzymology)
• Chromosome Disorders
• Fibroblasts (enzymology)
• Fluorescent Antibody Technique
• Humans
• Immunodiffusion
• Leukodystrophy, Metachromatic (enzymology, immunology)
• Skin (enzymology)
• Sulfatases (deficiency, immunology)