Summary
Juvenile Sandhoff, Sandhoff, and Tay-Sachs fibroblasts were mixed in paired combinations and treated with polyethylene glycol (PEG) to promote cell fusion. The hexosaminidase (hex) isozymes of PEG-treated mixed-cell cultures were determined and compared with those of untreated control cultures. Fusions involving juvenile Sandhoff and Sandhoff fibroblasts did not show an increase in either total hexosaminidase or heat-stable hex B. Fusions of juvenile Sandhoff (or Sandhoff) and Tay-Sachs fibroblasts showed an increase of heat-labile hex A. Thus, juvenile Sandhoff cells show complementation with Tay-Sachs cells but not Sandhoff cells. Consequently, the genetic defect in juvenile Sandhoff disease probably represents an allelic mutation of the gene that is defective in Sandhoff disease.
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References
Beutler, E., Kuhl, W., Comings, D.: Hexosaminidase isozyme in Type 0 GM2 Gangliosidosis (Sandhoff-Jatzkewitz disease). Am. J. Hum. Genet. 27, 628–638 (1975)
Geiger, B., Arnon, R.: Chemical characterization and subunit structure of human N-acetylhexosaminidases A and B. Biochemistry 15, 3484–3493 (1976)
Galjaard, H., Hoogeveen, A., De Wit-Verbeek, H. A., Reuser, A. J. J., Keijzer, W., Westerveld, A., Bootsma, D.: Tay-Sachs and Sandhoff's Disease: Intergenic complementation after somatic cell hybridization. Exp. Cell Res. 87, 444–448 (1974)
Ikonne, J. U., Rattazzi, M. C., Desnick, R. J.: Characterization of hex S, the major residual hexosaminidase activity in Type 0 GM2 Gangliosidosis (Sandhoff-Jatzkewitz disease). Am. J. Hum. Genet. 27, 639–650 (1975)
Lowry, O. H., Rosebrough, N. J., Farr, A. L., Randall, R. J.: Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193, 265–275 (1951)
Macleod, P. M., Wood, S., Jan, J. E., Applegarth, D. A., Dolman, C. L.: Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: Juvenile Sandhoff disease. Neurology 27, 571–573 (1977)
Okada, S., O'Brien, J. S.: Tay-Sachs disease: Generalized absence of a β-D-N-acetylhexosaminidase component. Science 165, 698–700 (1969)
Okada, S., Veath, M. L., Leroy, J., O'Brien, J. S.: Ganglioside GM2 storage diseases: Hexosaminidase deficiencies in cultured fibroblasts. Am. J. Hum. Genet. 23, 55–61 (1971)
Pontecorvo, G.: Production of mammalian somatic cell hybrids by means of polyethylene glycol treatment. Somatic Cell Genet. 1, 397–400 (1975)
Rattazzi, M. C., Brown, J. A., Davidson, R. G., Shows, T. B.: Tay-Sachs and Sandhoff-Jatzkewitz diseases: Complementation of hexosaminidase A deficiency by somatic cell hybridization. Cytogenet. Cell Genet. 14, 402–405 (1975)
Rattazzi, M. C., Brown, J. A., Davidson, R. G., Shows, T. B.: Studies on complementation of β hexosaminidase deficiency in human GM2 gangliosidosis. Am. J. Hum. Genet. 28, 143–154 (1976)
Ropers, H. H., Grzeschik, K. H., Bühler, E.: Complementation after fusion of Sandhoff- and Tay-Sachs fibroblasts. Humangenetik 26, 117–121 (1975)
Sandhoff, K., Andreae, U., Jatzkewitz, H.: Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Life Sci. 7, 283–288 (1968)
Thomas, G. H., Taylor, H. A. Jr., Miller, C. S., Axelman, J., Migeon, B. R.: Genetic complementation after fusion of Tay-Sachs and Sandhoff cells. Nature 250, 580–582 (1974)
Wood, S., MacDougall, B. G.: Juvenile Sandhoff disease: Some properties of the residual hexosaminidase in cultured fibroblasts. Am. J. Hum. Genet. 28, 489–495 (1976)
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Wood, S. Juvenile sandhoff disease: Complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion. Hum Genet 41, 325–329 (1978). https://doi.org/10.1007/BF00284766
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DOI: https://doi.org/10.1007/BF00284766