Abstract
The turnover of 1-14C) galactose was studied in fibroblast cultures, which were grown for 48 h. in a medium containing 5 μc of label but without serum. Subsequently cultures were maintained for up to 5 weeks in a medium containing serum. Lipids were extracted from replicate cultures at various intervals between 2 and 35 d. Maximum incorporation of the label was usually observed at 2 d. It had decreased by about 65% 1 week later but in chronic Gaucher's disease 90% of the maximum activity was retained at 9 d. and 33% at 35 d. Labeled lipids were mixed with known carriers (lipids from spinal cord, neutral glycolipids from erythrocytes and hematoside from Gaucher spleen). Thin-layer chromatograms were run in a 2-dimensional system. Lipid spots were detected by exposure to iodine, scraped, eluted and read in a scintillation counter. About 35–62% of the lipid label was incroporated into trihexosyl ceramide but no degradation of this lipid was found in Fabry's cells. The label was not incorporated into sulfatides, even in sulfatidosis. This probably reflects the inability of fibroblasts to synthesize sulfatides. Increased incorporation of labeled galactose was found in cerebrosides from sulfatidosis but not from Gaucher cells. This may imply that galactose is not a good precursor of glucosyl ceramides.
These experiments suggest that significant portions of galactose may be incorporated as such into galactolipids, while other experiments with (1-14C) acetate indicated that only a small fraction of this label is incorporated into glycolipids. The availability of galactose may represent a key factor in the rate of galactolipid synthesis. This hypothesis is presently being tested in patients with Fabry's disease, sulfatidosis and GM1-gangliosidosis.
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Philippart, M. (14C) Galactose incorporation into skin fibroblasts in glycolipid storage disorders (sulfatidosis, Fabry's Gaucher's, and Hurler's disease). Pediatr Res 5, 394 (1971). https://doi.org/10.1203/00006450-197108000-00097
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DOI: https://doi.org/10.1203/00006450-197108000-00097