亨特综合征的缺陷：艾杜糖醛酸-2-硫酸酯酶缺乏。
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase.
作者信息
Bach G, Eisenberg F, Cantz M, Neufeld E F
出版信息
Proc Natl Acad Sci U S A. 1973 Jul;70(7):2134-8. doi: 10.1073/pnas.70.7.2134.
Abstract
Skin fibroblasts cultured from patients affected with the Hunter syndrome are deficient in the activity of a protein, named the "Hunter corrective factor," that is required for degradation of dermatan and heparan sulfates. We now show that this factor, purified from human urine, removes about 2% of the sulfate residues from [(35)S]mucopolysaccharide accumulated within Hunter fibroblasts; these groups are derived from "oversulfated" regions of the polymer. Acetone-powder extracts of fibroblasts derived from patients with the Hunter syndrome are deficient in this sulfatase, in contrast to similar extracts from fibroblasts of individuals of other genotype. Hunter corrective factor coupled to alpha-L-iduronidase (or alternatively, mixed extracts from Hurler and Hunter fibroblasts) release iduronic acid from 4-O-alpha-L-sulfoiduronosyl-D-sulfoanhydromannose. We conclude that the Hunter corrective factor is a sulfatase for sulfated iduronic acid residues.
摘要
从患有亨特综合征的患者身上培养的皮肤成纤维细胞缺乏一种名为“亨特校正因子”的蛋白质的活性，该蛋白质是硫酸皮肤素和硫酸乙酰肝素降解所必需的。我们现在表明，从人尿中纯化的这种因子从亨特成纤维细胞内积累的[（35）S]粘多糖中去除了约2%的硫酸根残基；这些基团来自聚合物的“过度硫酸化”区域。与其他基因型个体的成纤维细胞的类似提取物相比，来自亨特综合征患者的成纤维细胞的丙酮粉提取物缺乏这种硫酸酯酶。与α-L-艾杜糖醛酸酶偶联的亨特校正因子（或者，来自Hurler和Hunter成纤维细胞的混合提取物）从4-O-α-L-磺基艾杜糖醛酸基-D-磺基脱水甘露糖中释放艾杜糖醛酸。我们得出结论，亨特校正因子是一种针对硫酸化艾杜糖醛酸残基的硫酸酯酶。
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