Summary
Mutual correction of co-cultivated fibroblasts from patients with Hunter's and Hurler's syndrome could be inhibited by either fructose 1-phosphate or mannose 6-phosphate. In the presence of fructose 1-phosphate a 50% mixture of fibroblasts from a patient with Hunter's syndrome and a normal homozygous individual showed an increased35S-sulphate incorporation into acid mucopolysaccharides. When fibroblast cultures from one obligate and two possible carriers of Hunter's syndrome were tested for35S-sulphate incorporation, the cultures showed either twice the normal35S-sulphate incorporation into acid mucopolysaccharides in the presence of fructose 1-phosphate or an abnormally high incorporation in the presence as well as in the absence of the sugar phosphate.
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References
Archer IM, Harper PS, Wusteman FS (1981) An improved assay for iduronate 2-sulphate sulphatase in serum and its use in the detection of carriers of the Hunter syndrome. Clin Chim Acta 112:107–112
Booth CW, Nadler HL (1974) Demonstration of the heterozygous state in Hunter's syndrome. Pediatrics 53:396–399
Cantz M, Kresse H, Barton RW, Neufeld EF (1972) Corrective factors for inborn errors of mucopolysaccharide metabolism. Methods Enzymol 28:884–897
Capobianchi MR, Romeo G (1976) Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter's syndrome. Experientia 32:459–460
Danes BS, Bearn AG (1967) Hunter's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis. J Exp Med 126:509–523
Donally PV, DiFerrante N (1975) Reliability of the Booth-Nadler technique for the detection of Hunter heterozygotes. Pediatrics 56:429–433
Fischer HD, Natowicz M, Sly WS, Bretthauer RK (1980a) Fibroblast receptor for lysosomal enzymes mediates pinocytosis of multivalent phosphomannan fragment. J Cell Biol 84:77–86
Fischer HD, Gonzalez-Noriega A, Sly WS (1980b) β-Glucuronidase binding to human fibroblast membrane receptors. J Biol Chem 255: 5069–5074
Fratantoni JC, Hall C-W, Neufeld EF (1968) The defect in Hurler's and Hunter's syndromes: Faulty degradation of mucopolysaccharide. Proc Natl Acad Sci USA 60:699–706
Fratantoni JC, Hall C-W, Neufeld EF (1969) The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation. Proc Natl Acad Sci USA 64: 360–366
Galjaard H (1980) Genetic metabolic diseases. Elsevier/North-Holland Biomedical Press, Amsterdam, p 706
Halley DJJ, Sacchi N, d'Azzo A, Reuser AJJ, Galjaard H (1980) Intercellular exchange of lysosomal hydroxylases between mutant human fibroblasts and other cell types. Exp Cell Res 129:383–392
Hasilik A, Neufeld EF (1980a) Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight. J Biol Chem 255:4937–4945
Hasilik A, Neufeld EF (1980b) Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues. J Biol Chem 255:4946–4950
Hultberg B (1980) Molecular forms of β-hexosaminidase and α-mannosidase in cell cultures from patients with mucolipidoses tupes II and III. Clin Chim Acta 103:159–163
Kaplan A (1980) Pinocytosis of intracellular and secreted β-hexosaminidase from human fibroblasts. Arch Biochem Biophys 202: 76–82
Kleijer WJ, Mooy PD, Kamp JJP van de, Niermeijer MF (1979) Prenatal monitoring for the Hunter syndrome: The heterozygous female fetus. Clin Genet 15:113–117
Liebaers IP, DiNatale P, Neufeld EF (1977) Iduronate sulfatase in amniotic fluid: An aid in the prenatal diagnosis of the Hunter syndrome. J Pediatr 90:423–425
Lyon M (1972) X chromosome inactivation and developmental patterns in mammals. Biol Rev 47:1–35
Lowry OH, Rosebrough NJ, Farr AL, Randall RJ (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193: 265–275
McKusick VA (1978) Mendelian inheritance in man, 5th edn. The Johns Hopkins University Press, Baltimore, p 783
Migeon BR, Sprenkle JA, Liebaers I, Scott JF, Neufeld EF (1977) X-linked Hunter syndrome: The heterozygous phenotype in cell culture. Am J Hum Genet 29:448–454
Milunsky A, Neufeld EF (1973) The Hunter syndrome in a 44,XX girl. N Engl J Med 288:106–107
Neufeld EF, Liebaers I, Epstein CJ, Yatziv S, Milunsky A, Migeon BR (1977) The Hunter syndrome in females: Is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet 29:455–461
Neufeld EF (1980) The uptake of enzymes into lysosomes: An overview. Birth Defects XVI:77–84
Nwokoro N, Neufeld EF (1979) Detection of Hunter heterozygotes by enzymatic analysis of hair roots. Am J Hum Genet 31:42–49
Sando GN, Neufeld EF (1977) Recognition and receptor-mediated uptake of a lysosomal enzyme, α-l-iduronidase, by cultured human fibroblasts. Cell 12:619–627
Sly WS, Stahl P (1978) Receptor-mediated uptake of lysosomal enzymes. In: Silverstein SC (ed) Transport of macromolecules in cellular systems. Dahlem Conferenz, Berlin, Verlag Chemie, Weinheim/Bergstraße, pp 229–244
Varki A, Kornfeld S (1980) Structural studies of phosphorylated high mannose-type oligosaccharides. J Biol Chem 255:10847–10858
Vladutiu GD, Rattazzi MC (1979) Excretion-reuptake route of β-hexosaminidase in normal and I-cell disease cultured fibroblasts. J Clin Invest 63:595–601
von Figura K, Weber E (1978) An alternative hypothesis of cellular transport of lysosomal enzymes in fibroblasts. Effect of inhibitors of lysosomal enzyme endocytosis on intra- and extra-cellular lysosomal enzyme activities. Biochem J 176:943–950
von Figura K, Voss B (1979) Cell surface-associated lysosomal enzymes in cultured human skin fibroblasts. Exp Cell Res 121:267–276
Wendel U, Rüdiger HW, Passarge E (1974) Biochemische diagnoze der mucopolysaccharid-speicher-krankheiten in der zellkultur. Monatsschr Kinderheilkd 122:23–30
Wendel U, Rüdiger HW, Passarge E (1974) Biochemische Diagnose der Mucopolysaccharid-Speicherkrankheiten in der Zellkultur. Monatsschr Kinderheilkd 122:23–30
Yataka T, Fluharty AL, Stevens RL, Kihara H (1978) Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes. Am J Hum Genet 30:575–582
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Tønnesen, T., Lykkelund, C. & Güttler, F. Diagnosis of Hunter's syndrome carriers; Radioactive sulphate incorporation into fibroblasts in the presence of fructose 1-phosphate. Hum Genet 60, 167–171 (1982). https://doi.org/10.1007/BF00569706
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DOI: https://doi.org/10.1007/BF00569706