Fiddler M B, Vine D, Shapira E, Nadler H L
Nature. 1979 Nov 1;282(5734):98-100. doi: 10.1038/282098a0.
Multiple sulphatase deficiency disease is an unusual autosomal recessive disorder characterised biochemically by a deficiency of several sulphohydrolase activities. The laboratory diagnosis of this combined neurological connective tissue disorder is made on the basis of decreased activities of the lysosomal enzymes, arylsulphatase A and arylsulphatase B and the microsomal enzyme, arylsulphatase C. The primary defect in this multi-enzyme deficiency has not been identified. Using immunological techniques to characterise further the residual activities of arylsulphatases A and B in the multiple sulphatase deficiency disease, we have examined the levels of cross-reaching material (CRM) to arylsulphatases A and B in cultured skin fibroblasts from controls and patients with multiple sulphatase deficiency, metachromatic leukodystrophy (deficiency of only arylsulphatase A activity) and Maroteaux-Lamy syndrome (deficiency of only arylsulphatase B activity). We report here results indicating that arylsulphatases A and B in multiple sulphatase deficiency are reduced in their levels of CRM while retaining a normal activity/CRM ratio. Because the two enzymes are apparently structurally unrelated, these data are consistent with the possibility that their combined deficiencies in this disorder may result from a defect in the coordinated expression of sulphohydrolases.
多种硫酸酯酶缺乏症是一种罕见的常染色体隐性疾病，其生化特征为多种硫酸水解酶活性缺乏。这种神经结缔组织联合疾病的实验室诊断是基于溶酶体酶芳基硫酸酯酶A和芳基硫酸酯酶B以及微粒体酶芳基硫酸酯酶C的活性降低做出的。这种多酶缺乏的原发性缺陷尚未明确。利用免疫技术进一步表征多种硫酸酯酶缺乏症中芳基硫酸酯酶A和B的残余活性，我们检测了来自对照以及患有多种硫酸酯酶缺乏症、异染性脑白质营养不良（仅芳基硫酸酯酶A活性缺乏）和马罗-拉米综合征（仅芳基硫酸酯酶B活性缺乏）患者的培养皮肤成纤维细胞中与芳基硫酸酯酶A和B交叉反应物质（CRM）的水平。我们在此报告的结果表明，多种硫酸酯酶缺乏症中的芳基硫酸酯酶A和B的CRM水平降低，同时保持正常的活性/CRM比值。由于这两种酶在结构上显然不相关，这些数据与以下可能性一致，即它们在这种疾病中的联合缺乏可能是由于硫酸水解酶协调表达缺陷所致。
