The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 70 ·No. 7 ·1973-07-00 ·Pages 2134-8

Bach G, Eisenberg F, Cantz M, Neufeld EF

Abstract

Skin fibroblasts cultured from patients affected with the Hunter syndrome are deficient in the activity of a protein, named the "Hunter corrective factor," that is required for degradation of dermatan and heparan sulfates. We now show that this factor, purified from human urine, removes about 2% of the sulfate residues from [(35)S]mucopolysaccharide accumulated within Hunter fibroblasts; these groups are derived from "oversulfated" regions of the polymer. Acetone-powder extracts of fibroblasts derived from patients with the Hunter syndrome are deficient in this sulfatase, in contrast to similar extracts from fibroblasts of individuals of other genotype. Hunter corrective factor coupled to alpha-L-iduronidase (or alternatively, mixed extracts from Hurler and Hunter fibroblasts) release iduronic acid from 4-O-alpha-L-sulfoiduronosyl-D-sulfoanhydromannose. We conclude that the Hunter corrective factor is a sulfatase for sulfated iduronic acid residues.

MeSH Terms

Carbohydrate Metabolism, Inborn Errors/metabolism Cells, Cultured Fibroblasts Galactose/metabolism Glucosamine/metabolism Glucuronidase/metabolism Glycosaminoglycans/biosynthesis,metabolism Glycosides/metabolism Humans Iduronic Acid/analogs & derivatives Intellectual Disability/metabolism Mannose/metabolism Mucopolysaccharidosis II/enzymology Retinitis Pigmentosa/enzymology Skin Sulfatases/metabolism Sulfur Isotopes Sulfuric Acids Tritium Uronic Acids/biosynthesis,metabolism

Chemicals

4-O-alpha-L-sulfoiduronosyl-D-sulfoanhydromannose Glycosaminoglycans Glycosides Sulfur Isotopes Sulfuric Acids Uronic Acids Tritium Iduronic Acid Sulfatases Glucuronidase Glucosamine Mannose Galactose

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Bach G

Eisenberg F

Cantz M

Neufeld E F

References (19)

19 references, click to expand

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Article Info

Journal

Proceedings of the National Academy of Sciences of the United States of America

Abbr.

Proc Natl Acad Sci U S A

ISSN

0027-8424

DOI

10.1073/pnas.70.7.2134

Published

1973-07-00

Pages

2134-8

Language

English

Region

United States

NLM ID

7505876

PMCID

PMC433682

Subset

External Links

PubMed source DOI: 10.1073/pnas.70.7.2134 PMC Full Text View journal details

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The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase.

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