Abstract
GM1-gangliosidosis Type I resembeles Hruler's disease whereas Type II manifests principally as psychomotor diterioration. Biochemically they share a general β-galactosidase deficiency, accumulation of GM1-ganglioside in neural and to a lesser extent in extraneural tissuesm and storage and excretion of undersulfated keratan sulfates. Fibroblast cell strains were established from a patient with each type. β-galactosidasc activity at pH 5.0 in type II cells was 3% of normal whereas it was less than 1% in Type I cells, a disparity confirmed in a separately developed strain from the same Type I patient. Other acid hydrolases were normal or elevated but the pattern was different in the two types. In addition to GM3 and DD1a gangliosides normally preset, GM1 and a components like GM2 were identified in Type II cells. Residual β-galactosidasc activity in crude extracts of both mutant cell strains was more thermostable than control. The radio-activity from 14C-galactose was 7–8 fold higher than normal in non-CPC precipitable glycosamingolycans of Type II cells. Chromatographically and electrophoretically these substances behaved like the undersulfated keratan sulfates previously isolated from liver. Despite major biochemical similarities of both clinical phenotypes and their different degrees of β-galactosidase deficiency in culture suggest that different mutant genes are responsible for the two types of GM1-gangliosidosis. (Supported by MRC grants: MT-1345, MA-2830.)
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Callahan, J., Pinsky, L., Powell, E. et al. Expression of GM1-gangliosidosis Types I and II in Fibroblast Cell Culture. Pediatr Res 4, 438 (1970). https://doi.org/10.1203/00006450-197009000-00020
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DOI: https://doi.org/10.1203/00006450-197009000-00020