PMID: 7333023Oct 1, 1981

Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients

Clinical Genetics
T YutakaH Yabuuchi

Abstract

Various sulfatase activities were assayed in cultured skin fibroblasts from patients with multiple sulfatase deficiency (MSD). MSD cell lines displayed deficiencies of arylsulfatase A and iduronate sulfatase, but activities of arylsulfatase B, N-acetylgalactosamine 6-sulfate sulfatase and N-acetylglucosamine 6-sulfate sulfatase were within normal ranges, but not consistently. Arylsulfatase A, minor anionic arylsulfatase and N-acetylgalactosamine 6-sulfate sulfatase in MSD cell lines had similar Km, pH optima, inhibitory or activator sensitivity to that of normal skin fibroblasts. Arylsulfatase B in MSD cell lines also had properties similar to that of normal skin fibroblasts, except an abnormal heat stability. From our results, we conclude that properties of arylsulfatase A, minor anionic arylsulfatase and N-acetylgalactosamine 6-sulfate sulfatase in MSD fibroblasts were intact. On the other hand, arylsulfatase B in MSD might be a functionally abnormal enzyme.

References

Sep 15, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·H Christomanou, K Sandhoff
Aug 15, 1978·Clinica Chimica Acta; International Journal of Clinical Chemistry·J Glössl, H Kresse
Dec 1, 1979·Proceedings of the National Academy of Sciences of the United States of America·A L Horwitz
Nov 14, 1979·Biochemical and Biophysical Research Communications·T KatoY Okada
Dec 1, 1979·Pediatric Research·R BasnerW Mlekusch
Jan 1, 1976·Advances in Experimental Medicine and Biology·E F NeufeldT W Lim
Oct 1, 1974·Carbohydrate Research·T W LimE F Neufeld
Nov 25, 1974·Biochimica Et Biophysica Acta·R L Stevens

Related Concepts

Ion-Exchange Chromatography Procedure
Fibroblasts
Skin
Sulfatases

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