MULTIPLE DEFICIENCY OF MUCOPOLYSACCHARIDE SULFATASES IN MUCOSULFATIDOSIS
MULTIPLE DEFICIENCY OF MUCOPOLYSACCHARIDE SULFATASES IN MUCOSULFATIDOSIS
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DOI：
10.1203/00006450-197912000-00002
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发表时间：
1979-01-01
影响因子：
3.6
通讯作者：
MLEKUSCH, W
中科院分区：
文献类型：
--
作者：
BASNER, R;FIGURA, KV;MLEKUSCH, W
对4例受粘硫酸脂病（多发性硫酸酯酶缺乏症，异染性脑白质营养不良的奥斯汀变体）影响的成纤维细胞测定已知降解粘多糖的5种硫酸酯酶的活性。有艾杜糖醛酸2-硫酸酯硫酸酯酶、磺酰胺酶、N-乙酰半乳糖胺6-硫酸酯硫酸酯酶、芳基硫酸酯酶B（N-乙酰半乳糖胺4-硫酸酯硫酸酯酶）和N-乙酰葡萄糖胺6-硫酸酯硫酸酯酶。这5种硫酸酯酶的活性受到严重抑制，证实了已知的芳基硫酸酯酶B缺乏以及不存在分别具有艾杜糖醛酸2-硫酸酯硫酸酯酶和磺酰胺酶活性的Hunter和Sanfilippo III A校正因子。连同早期关于芳基硫酸酯酶A和C、胆固醇硫酸酯酶和脱氢表雄酮硫酸酯酶缺乏的报道，粘硫酸酯病现在的特征在于9种不同硫酸酯酶的缺乏。粘硫酸脂中毒是一种疾病，其特征在于培养的成纤维细胞中多种硫酸酯酶的缺乏，与已知的5种粘多糖降解硫酸酯酶和芳基硫酸酯酶A的单一硫酸酯酶的缺乏相反。负责硫酸酯酶表达的基因位于常染色体和X染色体上。粘硫酸脂沉积症成纤维细胞应提供一个实验模型，为研究一个迄今未知的共同机制，负责表达硫酸酯酶的活动。
Fibroblasts of 4 patients affected with mucosulfatidosis (multiple sulfatase deficiency, Austin variant of metachromatic leukodystrophy) were assayed for activities of the 5 sulfatases known to degrade mucopolysaccharides. There were iduronide 2-sulfate sulfatase, sulfamidase, N-acetylgalactosamine 6-sulfate sulfatase, arylsulfatase B (N-acetylgalactosamine 4-sulfate sulfatase) and N-acetylglucosamine 6-sulfate sulfatase. The activities of these 5 sulfatases were severely depressed, confirming the known deficiency of arylsulfatase B and the absence of the Hunter and Sanfilippo III A corrective factors that have iduronide 2-sulfate sulfatase and sulfamidase activity, respectively. Together with earlier reports on the deficiencies of arylsulfatases A and C, cholesteryl sulfatase and dehydroepiandrosterone sulfatase, mucosulfatidosis is now characterized by the deficiency of 9 different sulfatases. Mucosulfatidosis is a disease characterized by the deficiency of multiple sulfatases in cultured fibroblasts in contrast to the deficiencies of single sulfatases that are known for the 5 mucopolysaccharide degrading sulfatases and arylsulfatase A. The genes responsible for the expression of the sulfatases are located both on autosomes and the X chromosomes. Mucosulfatidosis fibroblasts should provide an experimental model for the study of a hitherto unknown common mechanism responsible for the expression of sulfatase activities.