Pseudo arylsulfatase A deficiency. Biosynthesis of an abnormal arylsulfatase A.
Pseudo arylsulfatase A deficiency, an asymptomatic condition, and metachromatic leukodystrophy, a severe neurodegenerative disease, are both associated with profound reductions of arylsulfatase A activity in man. We now report that with metabolic labelling, cultured pseudo deficient cells synthesized about 20% of the normal amount of arylsulfatase A at a reduced rate of apparent synthesis and increased rate of degradation. However, in the presence of ammonium chloride which stimulated secretion of lysosomal enzymes, these cells synthesized about 80% of the normal amount of enzyme protein. Hence, the defect in pseudo arylsulfatase A deficiency is associated with labile arylsulfatase A molecules which can be stabilized if they are diverted from intracellular storage.
D000643:Ammonium Chloride / Q000494:pharmacology; D002553:Cerebroside-Sulfatase / Q000096:biosynthesis / Q000172:deficiency* / Q000378:metabolism; D004586:Electrophoresis; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007120:Immunochemistry; D008247:Lysosomes / Q000201:enzymology; D010779:Photofluorography
D000643:Ammonium Chloride; D002553:Cerebroside-Sulfatase