Skip to main content
NCBI home page
Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1979 Dec;76(12):6496–6499. doi: 10.1073/pnas.76.12.6496

Genetic complementation studies of multiple sulfatase deficiency.

A L Horwitz
PMCID: PMC411892  PMID: 118467

Abstract

Cultured fibroblasts from two individuals with multiple sulfatase deficiency (MSD) were found to have decreased activities of arylsulfatases (aryl-sulfate sulfohydrolase, EC 3.1.6.1) A, B, and C as well as iduronate-sulfate sulfatase, sulfamidase, and N-acetylglucosamine-6-sulfate sulfatase. The activity of N-acetylgalactosamine-6-sulfate sulfatase was decreased in one line but not in the other. Mixtures of MSD cell extracts with extracts from normal cells did not result in inhibition of normal sulfatase activities. Mixtures of MSD cell extracts with extracts of fibroblasts from patients with Hunter or Sanfilippo A syndrome did not activate iduronate-sulfate sulfatase or sulfamidase activity. Heterokaryons formed by fusion of MSD cells with Sanfilippo A fibroblasts demonstrated a partial correction of the enzyme deficiency. In similar manner, MSD-Hunter heterokaryons showed a significant increase in iduronate-sulfate-sulfatase activity. Genetic complementation in heterokaryons of MSD fibroblasts and cells of either Sanfilippo A or Hunter syndrome implies a genetic defect in MSD different from that causing specific sulfatase deficiencies.

Full text

PDF
6496

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Austin J. H. Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency. Arch Neurol. 1973 Apr;28(4):258–264. doi: 10.1001/archneur.1973.00490220066010. [DOI] [PubMed] [Google Scholar]
  2. BAUM H., DODGSON K. S., SPENCER B. The assay of arylsulphatases A and B in human urine. Clin Chim Acta. 1959 May;4(3):453–455. doi: 10.1016/0009-8981(59)90119-6. [DOI] [PubMed] [Google Scholar]
  3. Champion M. J., Shows T. B. Correction of human mucolipidosis II enzyme abnormalities in somatic cell hybrids. Nature. 1977 Nov 3;270(5632):64–66. doi: 10.1038/270064a0. [DOI] [PubMed] [Google Scholar]
  4. Davidson R. L., Gerald P. S. Improved techniques for the induction of mammalian cell hybridization by polyethylene glycol. Somatic Cell Genet. 1976 Mar;2(2):165–176. doi: 10.1007/BF01542629. [DOI] [PubMed] [Google Scholar]
  5. DeLuca C., Brown J. A., Shows T. B. Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B. Proc Natl Acad Sci U S A. 1979 Apr;76(4):1957–1961. doi: 10.1073/pnas.76.4.1957. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Eto Y., Wiesmann U. N., Carson J. H., Herschkowitz N. N. Multiple sulfatase deficiencies in cultured skin fibroblasts. Occurrence in patients with a variant form of metachromatic leukodystrophy. Arch Neurol. 1974 Feb;30(2):153–156. doi: 10.1001/archneur.1974.00490320041005. [DOI] [PubMed] [Google Scholar]
  7. Fluharty A. L., Stevens R. L., Davis L. L., Shapiro L. J., Kihara H. Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts. Am J Hum Genet. 1978 May;30(3):249–255. [PMC free article] [PubMed] [Google Scholar]
  8. Fratantoni J. C., Hall C. W., Neufeld E. F. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science. 1968 Nov 1;162(3853):570–572. doi: 10.1126/science.162.3853.570. [DOI] [PubMed] [Google Scholar]
  9. Horwitz A. L., Dorfman A. The enzymic defect in Morquio's disease: the specificity of N-acetylhexosamine sulfatases. Biochem Biophys Res Commun. 1978 Feb 28;80(4):819–825. doi: 10.1016/0006-291x(78)91318-9. [DOI] [PubMed] [Google Scholar]
  10. Milson D. W., Rose F. A., Dodgson K. S. The specific assay of arylsulphatase C, a rat liver microsomal marker enzyme. Biochem J. 1972 Jun;128(2):331–336. doi: 10.1042/bj1280331. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Neuwelt E., Stumpf D., Austin J., Kohler P. A monospecific antibody to human sulfatase A. Preparation, characterization and significance. Biochim Biophys Acta. 1971 Apr 27;236(1):333–346. doi: 10.1016/0005-2795(71)90182-6. [DOI] [PubMed] [Google Scholar]
  12. Rattazzi M. C., Brown J. A., Davidson R. G., Shows T. B. Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis. Am J Hum Genet. 1976 Mar;28(2):143–154. [PMC free article] [PubMed] [Google Scholar]
  13. Rattazzi M. C., Marks J. S., Davidson R. G. Electrophoresis of arylsulfatase from normal individuals and patients with metachromatic leukodystrophy. Am J Hum Genet. 1973 May;25(3):310–316. [PMC free article] [PubMed] [Google Scholar]
  14. Shapira E., DeGregorio R. R., Matalon R., Nadler H. L. Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome. Biochem Biophys Res Commun. 1975 Jan 20;62(2):448–455. doi: 10.1016/s0006-291x(75)80159-8. [DOI] [PubMed] [Google Scholar]
  15. Telser A., Robinson H. C., Dorfman A. The biosynthesis of chondroitin sulfate. Arch Biochem Biophys. 1966 Sep 26;116(1):458–465. doi: 10.1016/0003-9861(66)90053-1. [DOI] [PubMed] [Google Scholar]

Articles from Proceedings of the National Academy of Sciences of the United States of America are provided here courtesy of National Academy of Sciences

RESOURCES