GM1-gangliosidosis: accumulation of ganglioside GM1 in cultured skin fibroblasts and correlation with clinical types.
Uptake of radioactivity from 14C-galactose into gangliosides by cultured skin fibroblasts was studied. GM3 was the major ganglioside in control human fibroblasts. An increase of GM1 was demonstrated in GM1-gangliosidosis fibroblasts. The degree of GM1 accumulation was correlated with the clinical types of this disease. The fibroblasts from an infantile-type patient showed a marked increase of GM1. In late-onset types the amount of total gangliosides was only slightly increased, but the distribution of individual gangliosides was definitely abnormal; a relative increase of GM1 was demonstrated in these cases. GM1 beta-galactosidase activities were not detectable in either infantile or late-onset cases.
D002478:Cells, Cultured; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology / Q000378:metabolism; D005677:G(M1) Ganglioside / Q000378:metabolism*; D005679:G(M3) Ganglioside / Q000378:metabolism; D005732:Gangliosides / Q000378:metabolism*; D005733:Gangliosidoses / Q000201:enzymology / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008297:Male; D012867:Skin / Q000201:enzymology / Q000378:metabolism*; D001616:beta-Galactosidase / Q000378:metabolism
D005679:G(M3) Ganglioside; D005732:Gangliosides; D005677:G(M1) Ganglioside; D001616:beta-Galactosidase