芳基硫酸酯酶A（ARS A）在多种硫酸酯酶缺乏症成纤维细胞中的存在情况。
Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts.
作者信息
Fluharty A L, Stevens R L, Davis L L, Shapiro L J, Kihara H
出版信息
Am J Hum Genet. 1978 May;30(3):249-55.
Abstract
Multiple deficiency disorder fibroblasts cultured in MEM-CO2 showed deficiencies of arylsulfatase A(ARS A) comparable to the deficiency in metachromatic leukodystrophy fibroblasts. However, the MSDD fibroblasts cultured in MEM-HEPES contained near normal levels of ARS A. Moreover, the enzyme from the latter fibroblasts was indistinguishable from ARS A of control fibroblasts on DEAE-cellulose chromatography, ratio of activity with several substrates, thermal inactivation, sensitivity to inhibitors, and precipitation by antiserum to human ARS A. These data support the conclusion that the ARS A genome is intact in MSDD fibroblasts and, by extension, in MSDD patients. Other sulfatases were present at levels ranging from mildly deficient to near normal but never as low as seen in the corresponding specific sulfatase deficient disorders.
摘要
在MEM-CO₂中培养的多种缺陷症成纤维细胞显示出芳基硫酸酯酶A（ARS A）缺乏，这与异染性脑白质营养不良成纤维细胞中的缺乏情况相当。然而，在MEM-HEPES中培养的MSDD成纤维细胞含有接近正常水平的ARS A。此外，来自后一种成纤维细胞的酶在DEAE-纤维素色谱上、与几种底物的活性比、热失活、对抑制剂的敏感性以及用抗人ARS A抗血清沉淀方面与对照成纤维细胞的ARS A没有区别。这些数据支持这样的结论，即ARS A基因组在MSDD成纤维细胞中是完整的，进而在MSDD患者中也是完整的。其他硫酸酯酶的水平从轻度缺乏到接近正常，但从未像在相应的特定硫酸酯酶缺乏症中那样低。
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本文引用的文献
1
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J Biol Chem. 1951 Nov;193(1):265-75.
2
The assay of arylsulphatases A and B in human urine.人尿中芳基硫酸酯酶A和B的测定。
Clin Chim Acta. 1959 May;4(3):453-5. doi: 10.1016/0009-8981(59)90119-6.
3
Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures.异染性脑白质营养不良：皮肤成纤维细胞培养物中芳基硫酸酯酶A缺乏症。
Proc Natl Acad Sci U S A. 1969 Mar;62(3):887-91. doi: 10.1073/pnas.62.3.887.
4
Cerebroside sulfatase determination in cultured human fibroblasts.培养的人成纤维细胞中脑苷脂硫酸酯酶的测定
Biochim Biophys Acta. 1972 Mar 8;258(3):769-78. doi: 10.1016/0005-2744(72)90178-7.
5
Simplified procedure for preparation of 35S-labeled brain sulfatide.制备35S标记脑硫脂的简化程序
Lipids. 1974 Nov;9(11):865-9. doi: 10.1007/BF02532611.
6
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Carbohydr Res. 1974 Oct;37(1):103-9. doi: 10.1016/s0008-6215(00)87067-6.
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