Abstract
Cultured lymphoid cells of both homozygotes and heterozygotes for cystic fibrosis could be distinguished from those of normals by (1) growth pattern, gross clumping, and (2) a relative increase in dermatan sulfate, with a normal total mucopolysaccharide content. Lines derived from the genetic mucopolysaccharidoses also had these characteristics, but their total mucopolysaccharide content was markedly increased. These observations support the hypothesis that the cellular disturbance in cystic fibrosis resides in those cellular regions whose functions would be altered by mucopolysaccharide composition.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bitter, T., and Muir, H. M. (1962). A modified uronic acid carbazole reaction. Anal. Biochem. 4330.
Conover, J. H., Beratis, N. G., Conod, E. J., Ainbender, E., and Hirschhorn, K. (1973). Studies on ciliary dyskinesia factor in cystic fibrosis. II. Short term leukocyte cultures and long term lymphoid lines. Pediat. Res. 7224.
Danes, B. S., and Bearn, A. G. (1968). Cystic fibrosis: Distribution of mucopolysaccharides in fibroblast cultures. Biochem. Biophys. Res. Commun. 36919.
Danes, B. S., and Bearn, A. G. (1969). Cystic fibrosis of the pancreas: A study in cell culture. J. Exptl. Med. 129775.
Danes, B. S., Hütteroth, T. H., Cleve, H., and Bearn, A. G. (1972). The Hurler syndrome: A study of cultured lymphoid cell lines. J. Exptl. Med. 136644.
Di Ferrante, N., Donnelly, P. V., and Berglund, R. K. (1971). Colorimetric measurement of dermatan sulphate. Biochem. J. 124549.
Di Ferrante, N., Neri, G., Neri, M. E., and Hogsett, W. E. (1972). Measurement of urinary glucosaminoglycans with quaternary ammonium salts: An extension of the method. Connect. Tissue Res. 193.
Di Sant'Agnese, P. A., and Talamo, R. C. (1967). Pathogenesis and physiopathology of cystic fibrosis of the pancreas. New Engl. J. Med. 2771287.
Gibson, L. E., Matthews, W. J., and Minihan, P. T. (1970). Hypermeable mucus in cystic fibrosis. Lancet 2189.
Hütteroth, T. H., Litwin, S. D., and Cleve, H. (1972). Cultured lymphoid cell lines from normal subjects: Membrane associated immunoglobulins studied by mixed antiglobulin reaction. Cell. Immunol. 5446.
Johansen, P. G., Anderson, C. M., and Hadorn, B. (1968). Cystic fibrosis of the pancreas: A generalized disturbance of water and electrolyte movement in exocrine tissue. Lancet 1459.
Lagunoff, D., and Warren, G. (1962). Determination of 2-deoxy-2-sulfoaminohexose content of mucopolysaccharides. Arch. Biochem. Biophys. 99396.
Lie, O. S., McKusick, V. A., and Neufeld, E. F. (1972). Simulation of genetic mucopoly-saccharidoses in normal human fibroblasts by alteration of pH of the medium. Proc. Natl. Acad. Sci. 692361.
Lowe, C. V., Adler, W., Brogerger, O., Walsh, J., and Meter, E. (1966). Mucopolysaccharide from patients with cystic fibrosis. Science 1531124.
Matalon, R., and Dorfman, A. (1968). Acid mucopolysaccharides in cultured fibroblasts of cystic fibrosis of the pancreas. Biochem. Biophys. Res. Commun. 33954.
Mathews, M. B. (1967). Biophysical aspects of acid mucopolysaccharides relevant to connective tissue structure and function. In Wagner, B. M., and Smith, D. E. (eds.), The Connective Tissue, Williams and Wilkins, Baltimore, p. 304.
Moore, G. E., Ito, E., and Sandberg, A. A. (1966). Culture of human leukemia cells. Cancer 19713.
Schiller, S. S., Slover, G. A., and Dorfman, A. (1961). A method for the separation of acid mucopolysaccharides: Its application to the isolation of heparin from the skin of rats. J. Biol. Chem. 236982.
Scott, J. E. (1960). Aliphatic ammonium salts in the assay of acidic polysaccharides from tissues. In Glick, D. (ed.), Methods of Biochemical Analyses, Vol. 8, Wiley, New York, p. 8:145.
Wessler, E. (1968). Analytical and preparative separation of acidic glycosaminoglycans by electrophoresis in barium acetate. Anal. Biochem. 26439.
Wiesmann, U., and Neufeld, E. F. (1970). Metabolism of sulfated mucopolysaccharide in cultured fibroblasts from cystic fibrosis patients. J. Pediat. 77685.
Author information
Authors and Affiliations
Additional information
This research was made possible through a grant from The National Foundation-March of Dimes and, in part, supported by The Cystic Fibrosis Children's Fund and The National Cystic Fibrosis Research Foundation.
Career Scientist of the Health Research Council of New York City (I-797).
Rights and permissions
About this article
Cite this article
Danes, B.S., Backofen, J.E. & Rottell, B.K. Cystic fibrosis: Demonstration of an abnormality in mucopolysaccharides in cultured lymphoid lines. Biochem Genet 12, 359–366 (1974). https://doi.org/10.1007/BF00486640
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00486640