Abstract
Extract: β-Galactosidase activities were determined in fibroblast preparations derived from the bone marrow and skin of a patient with GM1 gangliosidosis and from 11 control subjects. Two β-Galactosidase substrates were employed in these studies: ganglioside GM1, labled with tritium in the terminal galactose by a new procedure, and o-nitrophenly-β-galactopyranoside. The GM1-β-galactosidase activity in the cells of the patient was reduced 17- to 30-fold compared with the activity in the cells of the control subjects; also, the cells of the patient exhibited an 11- to 30-fold depression in onitrophenyl-β-galactosidase activity (ONP-β-galactosidase). These results demonstrated that fibroblasts cultured from an affected subject might be employed for diagnostic purposes. The GM1-and o-nitrophenyl-β-galactosidase activities of fibroblasts cultured from amniotic fluid have also been determined; o-nitrophenly-βgalactosidase activities ranged from 61 to 153 units/106 cells and the GM1-βgalactosidase activities varied between 45 and 95 units/108 cells.
Speculation: Determination of GM1-β-galactosdase activity in fibroblasts cultured from skin may permit the detction of individuals heterozygous for GM1 gangliosdosis. The presnce of a β-galactosidase capable of releasing the terminal galactose from ganglioside GM1 in fibroblasts derived from amniotic fluid offers a basis for possible intrauterine diabnosis of GM1 ganagliosidosis.
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Sloan, H., Uhlendorf, B., Jacobson, C. et al. β-Galactosidase in Tissue Culture Derived from Human Skin and Bone Marrow: Enzyme defect in GM1 Gangliosidosis. Pediatr Res 3, 532–537 (1969). https://doi.org/10.1203/00006450-196911000-00002
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DOI: https://doi.org/10.1203/00006450-196911000-00002