Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1981 Jul;33(4):576–583.

The correction of hunter fibroblasts by exogenous iduronate sulfate sulfatase: Biochemical and ultrastructural studies

Rachel Eliahu, Eliezer Sekeles, Rachel Cohen, Gideon Bach
PMCID: PMC1685092  PMID: 6789675

Abstract

The exogenous addition of iduronate sulfate sulfatase to cultured fibroblasts of Hunter patients resulted in a full correction of the metabolic defect as demonstrated by chemical and ultrastructural analyses. As little as 25% of the normal fibroblasts' enzyme levels were sufficient for this correction. The half-disappearance time of the internalized enzyme was 3–4 days. Prolonged incubation of corrected cells resulted in a gradual reaccumulation of mucopolysaccharides.

Full text

PDF
576

Images in this article

579Fig. 1
on p.579

Selected References

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

  1. BITTER T., MUIR H. M. A modified uronic acid carbazole reaction. Anal Biochem. 1962 Oct;4:330–334. doi: 10.1016/0003-2697(62)90095-7. [DOI] [PubMed] [Google Scholar]
  2. Bach G., Eisenberg F., Jr, Cantz M., Neufeld E. F. The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci U S A. 1973 Jul;70(7):2134–2138. doi: 10.1073/pnas.70.7.2134. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Bach G., Friedman R., Weissmann B., Neufeld E. F. The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase. Proc Natl Acad Sci U S A. 1972 Aug;69(8):2048–2051. doi: 10.1073/pnas.69.8.2048. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Bach G., Liebmann-Eisenberg A. Intracellular localization of exogenous beta-glucuronidase in cultured skin fibroblasts. Eur J Biochem. 1979 Jun 1;96(3):613–619. doi: 10.1111/j.1432-1033.1979.tb13076.x. [DOI] [PubMed] [Google Scholar]
  5. Bach G., Ziegler M., Kohn G., Cohen M. M. Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV. Am J Hum Genet. 1977 Nov;29(6):610–618. [PMC free article] [PubMed] [Google Scholar]
  6. Cantz M., Chrambach A., Bach G., Neufeld E. F. The Hunter corrective factor. Purification and preliminary characterization. J Biol Chem. 1972 Sep 10;247(17):5456–5462. [PubMed] [Google Scholar]
  7. Daloze P., Delvin E. E., Glorieux F. H., Corman J. L., Bettez P., Toussi T. Replacement therapy for inherited enzyme deficiency: liver orthotopic transplantation in Niemann-Pick disease type A. Am J Med Genet. 1977;1(2):229–239. doi: 10.1002/ajmg.1320010209. [DOI] [PubMed] [Google Scholar]
  8. Dawson G., Matalon R., Li Y. T. Correction of the enzymic defect in cultured fibroblasts from patients with Fabry's disease: treatment with purified alpha-galactosidase from ficin. Pediatr Res. 1973 Aug;7(8):684–690. doi: 10.1203/00006450-197308000-00002. [DOI] [PubMed] [Google Scholar]
  9. Dean M. F., Stevens R. L., Muir H., Benson P. F., Button L. R., Anderson R. L., Boylston A., Mowbray J. Enzyme replacement therapy by fibroblast transplantation: long-term biochemical study in three cases of Hunter's syndrome. J Clin Invest. 1979 Jan;63(1):138–146. doi: 10.1172/JCI109267. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Desnick R. J., Thorpe S. R., Fiddler M. B. Toward enzyme therapy for lysosomal storage diseases. Physiol Rev. 1976 Jan;56(1):57–99. doi: 10.1152/physrev.1976.56.1.57. [DOI] [PubMed] [Google Scholar]
  11. 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]
  12. Fratantoni J. C., Hall C. W., Neufeld E. F. The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide. Proc Natl Acad Sci U S A. 1968 Jun;60(2):699–706. doi: 10.1073/pnas.60.2.699. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Groth C. G., Collste H., Dreborg S., Håkansson G., Lundgren G., Svennerholm L. Attempt at enzyme replacement by organ transplantation: renal transplantation in Gaucher disease. Transplant Proc. 1979 Jun;11(2):1218–1219. [PubMed] [Google Scholar]
  14. Hickman S., Neufeld E. F. A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes. Biochem Biophys Res Commun. 1972 Nov 15;49(4):992–999. doi: 10.1016/0006-291x(72)90310-5. [DOI] [PubMed] [Google Scholar]
  15. Hickman S., Shapiro L. J., Neufeld E. F. A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts. Biochem Biophys Res Commun. 1974 Mar 15;57(1):55–61. doi: 10.1016/s0006-291x(74)80356-6. [DOI] [PubMed] [Google Scholar]
  16. Hong C., Sutherland D. E., Matas A. J., Najarian J. S. Bone marrow transplantation for correction of enzyme deficiency disease. Transplant Proc. 1979 Mar;11(1):498–503. [PubMed] [Google Scholar]
  17. Kaplan A., Achord D. T., Sly W. S. Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts. Proc Natl Acad Sci U S A. 1977 May;74(5):2026–2030. doi: 10.1073/pnas.74.5.2026. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Kyriakides E. C., Paul B., Balint J. A. Lipid accumulation and acid lipase deficiency in fibroblasts from a family with Wolman's disease, and their apparent correction in vitro. J Lab Clin Med. 1972 Dec;80(6):810–816. [PubMed] [Google Scholar]
  19. Neufeld E. F., Cantz M. J. Corrective factors for inborn errors of mucopolysaccharide metabolism. Ann N Y Acad Sci. 1971 Jul 6;179:580–587. doi: 10.1111/j.1749-6632.1971.tb46934.x. [DOI] [PubMed] [Google Scholar]
  20. Porter M. T., Fluharty A. L., Kihara H. Correction of abnormal cerebroside sulfate metabolism in cultured metachromatic leukodystrophy fibroblasts. Science. 1971 Jun 18;172(3989):1263–1265. doi: 10.1126/science.172.3989.1263. [DOI] [PubMed] [Google Scholar]
  21. Reynolds G. C., Baker H. J., Reynolds R. H. Enzyme replacement using liposome carriers in feline Gm1 gangliosidosis fibroblasts. Nature. 1978 Oct 26;275(5682):754–755. doi: 10.1038/275754a0. [DOI] [PubMed] [Google Scholar]
  22. Rome L. H., Garvin A. J., Allietta M. M., Neufeld E. F. Two species of lysosomal organelles in cultured human fibroblasts. Cell. 1979 May;17(1):143–153. doi: 10.1016/0092-8674(79)90302-7. [DOI] [PubMed] [Google Scholar]
  23. Sando G. N., Neufeld E. F. Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-l-iduronidase, by cultured human fibroblasts. Cell. 1977 Nov;12(3):619–627. doi: 10.1016/0092-8674(77)90262-8. [DOI] [PubMed] [Google Scholar]
  24. Ullrich K., Mersmann G., Weber E., Von Figura K. Evidence for lysosomal enzyme recognition by human fibroblasts via a phosphorylated carbohydrate moiety. Biochem J. 1978 Mar 15;170(3):643–650. doi: 10.1042/bj1700643. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES