Incorporation and degradation of GM1 ganglioside and asialoGM1 ganglioside in cultured fibroblasts from normal individuals and patients with beta-galactosidase deficiency.
The uptake and degradation of GM1 ganglioside (GM1) and asialoGM1 ganglioside (GA1) were studied in cultured fibroblasts from normal individuals and patients with beta-galactosidase deficiency, using the lipid-loading test. The glycolipids were incorporated from the media into the fibroblasts and the terminal galactose was hydrolyzed in normal cells. The hydrolysis rates of GA1 were 80-86% of normal on the 3rd day after loading, while GM1 was hydrolyzed slowly; 35-54% on the 14th day. In infantile GM1 gangliosidosis and I-cell disease, little GM1 and GA1 was hydrolyzed on any day of culture, while fibroblasts from patients with adult GM1 gangliosidosis, Morquio disease type B and galactosialidosis hydrolyzed the lipids at nearly normal rates. The intracellular accumulation of the glycolipids, on the basis of protein content, was abnormally high in the case of infantile GM1 gangliosidosis and I-cell disease, but normal in the other disorders examined. These observations indicate that the in situ metabolism of GM1 and GA1 is probably normal in fibroblasts from patients with adult GM1 gangliosidosis, Morquio disease type B and galactosialidosis, although in vitro beta-galactosidase activities in these disorders are very low. The results are compatible with findings that GM1 and GA1 do not accumulate in the somatic organs of patients with adult GM1 gangliosidosis and galactosialidosis. In I-cell disease, however, the results of the loading test did not agree with the finding that there is little accumulation of glycolipids in postmortem tissues.
Kobayashi
T
T
Shinnoh
N
N
Kuroiwa
Y
Y
D000328:Adult; D000818:Animals; D001921:Brain; D002417:Cattle; D002478:Cells, Cultured; D005347:Fibroblasts / Q000378:metabolism; D005677:G(M1) Ganglioside / Q000378:metabolism*; D005696:Galactosidases / Q000172:deficiency*; D005733:Gangliosidoses / Q000378:metabolism; D006028:Glycosphingolipids / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007700:Kinetics; D012016:Reference Values; D014316:Tritium; D001616:beta-Galactosidase / Q000172:deficiency*
D006028:Glycosphingolipids; D014316:Tritium; D005677:G(M1) Ganglioside; C018835:asialo GM1 ganglioside; D005696:Galactosidases; D001616:beta-Galactosidase