Genetic complementation studies of multiple sulfatase deficiency.

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.

• Authors: A L Horwitz
• Journal: Proceedings of the National Academy of Sciences of the United States of America (Proc Natl Acad Sci U S A) Vol. 76 Issue 12 Pg. 6496-9 (Dec 1979) ISSN: 0027-8424 [Print] United States
• PMID: 118467 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Sulfatases
• Arylsulfatases

Topics

• Arylsulfatases (deficiency)
• Cells, Cultured
• Genetic Complementation Test
• Humans
• Hybrid Cells (enzymology)
• Leukodystrophy, Metachromatic (genetics)
• Mucopolysaccharidosis II (genetics)
• Mucopolysaccharidosis III (genetics)
• Sulfatases (deficiency, genetics)