Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV.
Increased concentrations of total sulfated mucopolysaccharides (MPS), threefold, and hyaluronic acid (HA), 10-fold, were found in ML IV fibroblast extracts when compared to normal controls. Such accumulations altered the distribution of MPS:HA comprised 70% of total MPS in ML IV but only 30% in control cells. Intracellular sulfated MPS was observed accumulating almost linearly in ML IV fibroblasts. "Pulse-chase" experiments indicate that both HA and the sulfated MPS remain in the ML IV cells for long periods of time; in control cells, they are rapidly removed as low molecular weight, dialyzable fragments. These data suggest that the MPS accumulation in ML IV fibroblasts, is the consequence of a catabolic block, probably involving the lysosome.
D002675:Child, Preschool; D005347:Fibroblasts / Q000378:metabolism; D006025:Glycosaminoglycans / Q000302:isolation & purification*; D006801:Humans; D009081:Mucolipidoses / Q000235:genetics / Q000378:metabolism*; D012867:Skin / Q000378:metabolism
D006025:Glycosaminoglycans