Horwitz A L
Proc Natl Acad Sci U S A. 1979 Dec;76(12):6496-9. doi: 10.1073/pnas.76.12.6496.
Cultured fibroblasts from two individuals with multiple sulfatase deficiency (MSD) were found to have decreased activities of arylsulfatases (aryl-sulfate sulfohydrolase, EC 3.1.6.1) A, B, and C as well as iduronate-sulfate sulfatase, sulfamidase, and N-acetylglucosamine-6-sulfate sulfatase. The activity of N-acetylgalactosamine-6-sulfate sulfatase was decreased in one line but not in the other. Mixtures of MSD cell extracts with extracts from normal cells did not result in inhibition of normal sulfatase activities. Mixtures of MSD cell extracts with extracts of fibroblasts from patients with Hunter or Sanfilippo A syndrome did not activate iduronate-sulfate sulfatase or sulfamidase activity. Heterokaryons formed by fusion of MSD cells with Sanfilippo A fibroblasts demonstrated a partial correction of the enzyme deficiency. In similar manner, MSD-Hunter heterokaryons showed a significant increase in iduronate-sulfate-sulfatase activity. Genetic complementation in heterokaryons of MSD fibroblasts and cells of either Sanfilippo A or Hunter syndrome implies a genetic defect in MSD different from that causing specific sulfatase deficiencies.
发现来自两名患有多种硫酸酯酶缺乏症（MSD）个体的培养成纤维细胞中，芳基硫酸酯酶（芳基硫酸硫酸水解酶，EC 3.1.6.1）A、B和C以及艾杜糖醛酸硫酸酯酶、硫酸酰胺酶和N - 乙酰葡糖胺 - 6 - 硫酸酯酶的活性降低。N - 乙酰半乳糖胺 - 6 - 硫酸酯酶的活性在一个细胞系中降低，而在另一个细胞系中未降低。MSD细胞提取物与正常细胞提取物的混合物并未导致正常硫酸酯酶活性受到抑制。MSD细胞提取物与亨特综合征或桑菲利波A综合征患者的成纤维细胞提取物的混合物并未激活艾杜糖醛酸硫酸酯酶或硫酸酰胺酶的活性。MSD细胞与桑菲利波A成纤维细胞融合形成的异核体显示出酶缺陷的部分校正。以类似的方式，MSD - 亨特异核体的艾杜糖醛酸硫酸酯酶活性显著增加。MSD成纤维细胞与桑菲利波A综合征或亨特综合征细胞形成的异核体中的遗传互补表明，MSD中的遗传缺陷不同于导致特定硫酸酯酶缺乏的缺陷。
