Ameen M, Chang P L
FEBS Lett. 1987 Jul 13;219(1):130-4. doi: 10.1016/0014-5793(87)81204-8.
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.
假性芳基硫酸酯酶A缺乏症（一种无症状病症）和异染性脑白质营养不良（一种严重的神经退行性疾病）在人类中均与芳基硫酸酯酶A活性的显著降低有关。我们现在报告，通过代谢标记，培养的假性缺陷细胞以降低的表观合成速率和增加的降解速率合成了约20%正常量的芳基硫酸酯酶A。然而，在氯化铵刺激溶酶体酶分泌的情况下，这些细胞合成了约80%正常量的酶蛋白。因此，假性芳基硫酸酯酶A缺乏症的缺陷与不稳定的芳基硫酸酯酶A分子有关，如果这些分子从细胞内储存转移，它们可以被稳定下来。
