Ramage P, Cunningham W L
Biochim Biophys Acta. 1975 Dec 5;411(2):325-33. doi: 10.1016/0304-4165(75)90312-8.
Some hitherto undetected differences in chemical and macromolecular structure between both dermatan sulphates and heparan sulphates excreted in the Hurler and Hunter syndromes are demonstrated. 1. Of Hunter dermatan sulphate, 37-43% is resistant to periodate oxidation, as opposed to 25% of the corresponding Hurler material. It is likely that the resistance is conferred by the presence of sulphate groups on carbon atoms 2 or 3 of the iduronate residues, correlating with the recently established deficiency of a sulphoiduronate sulphatase in Hunter fibroblasts. 2. Two distinct electrophoretic species of dermatan sulphate are found in Hunter urine, but only one in Hurler preparations. 3. Ion-exchange chromatography and gel filtration reveal that Hurler dermatan sulphate is more heterogeneous with respect to molecular weight distribution than the other. The dermatan sulphates were degraded by hyaluronidase to a limited extent. 4. Hurler heparan sulphate contains a higher proportion of sulphoamino-glucose than material from Hunter urine. Similar high levels in Sanfilippo patients, representing 65-78% of the total glucosamine suggest a direct correlation with mental deficiency.
研究表明，在黏多糖贮积症Ⅰ型（Hurler综合征）和黏多糖贮积症Ⅱ型（Hunter综合征）中排泄出的硫酸皮肤素和硫酸乙酰肝素之间，存在一些迄今未被发现的化学和大分子结构差异。1. Hunter综合征的硫酸皮肤素中，37% - 43%对高碘酸盐氧化具有抗性，而相应的Hurler综合征物质这一比例为25%。这种抗性可能是由艾杜糖醛酸残基碳原子2或3上的硫酸基团所致，这与最近发现的Hunter成纤维细胞中硫酸艾杜糖醛酸硫酸酯酶缺乏相关。2. 在Hunter综合征患者尿液中发现了两种不同的硫酸皮肤素电泳种类，而在Hurler综合征制剂中仅有一种。3. 离子交换色谱法和凝胶过滤显示，Hurler综合征的硫酸皮肤素在分子量分布方面比另一种更具异质性。硫酸皮肤素仅被透明质酸酶有限程度地降解。4. Hurler综合征的硫酸乙酰肝素所含的硫酸氨基葡萄糖比例高于Hunter综合征患者尿液中的物质。在Sanfilippo综合征患者中也有类似的高水平，占总氨基葡萄糖的65% - 78%，这表明与智力缺陷直接相关。
