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Selected Publication:
Paschke, E; Höfler, G; Roscher, A.
Infantile sialic acid storage disease: the fate of biosynthetically labeled N-acetyl-(3H)-neuraminic acid in cultured human fibroblasts.
Pediatr Res. 1986; 20(8):773-777
Doi: 10.1203/00006450-198608000-00015
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- Leading authors Med Uni Graz
- Paschke Eduard
- Co-authors Med Uni Graz
- Höfler Gerald
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- Abstract:
- N-acetyl-(3H)-mannosamine[(3H)-ManNAc] was used as a precursor for the metabolic labeling of N-acetyl-(3H)-neuraminic acid [(3H)-NANA] in cultured fibroblasts of a patient with infantile sialic acid storage disease (ISSD). The metabolic fate of free and bound (3H)-NANA, isolated by high-performance liquid chromatography, was followed under pulse-chase labeling conditions. Nonsaturable accumulation of free (3H)-NANA was observed in ISSD, while the metabolic flux from (3H)-ManNAc to NANA-glycoconjugates was unaffected. Accumulated free (3H)-NANA could not effectively be chased from ISSD cells although N-acetyl-(3H)-hexosamines [(3H)-HexNAc] were appearing in the chase medium. These metabolites could arise from (3H)-NANA bound to glycoconjugates which were cleaved at normal rates in ISSD. The finding that free (3H)-NANA was markedly increased relative to its major products (3H)-HexNAc is suggestive for an impaired degradation and reutilization of (3H)-NANA due to trapping in a metabolically unaccessible pool. In titration experiments with digitonin a clear-cut increase in the latency of labeled NANA relative to a cytoplasmic marker enzyme was evident in ISSD. The release of (3H)-NANA, however, followed closely the digitonin-induced release of the lysosomal enzyme beta-hexosaminidase. This is suggestive for a lysosomal location of the stored material.
- Find related publications in this database (using NLM MeSH Indexing)
- Biological Transport -
- Carbohydrate Metabolism, Inborn Errors - metabolism
- Cell Compartmentation - metabolism
- Cells, Cultured - metabolism
- Fibroblasts - metabolism
- Hexosaminidases - metabolism
- Humans - metabolism
- L-Lactate Dehydrogenase - metabolism
- Sialic Acids - metabolism
- beta-N-Acetylhexosaminidase - metabolism