RESIDUAL ACTIVITY OF ALPHA-GALACTOSIDASE A IN FABRYS-DISEASE
RESIDUAL ACTIVITY OF ALPHA-GALACTOSIDASE A IN FABRYS-DISEASE
复制标题
DOI：
10.1007/bf00484919
复制
发表时间：
1975-01-01
影响因子：
2.4
通讯作者：
RUFFILLI, A
中科院分区：
文献类型：
--
作者：
ROMEO, G;DURSO, M;RUFFILLI, A
通过小的DEAE-纤维素柱，以及在一些实验中通过用偶联抗α-半乳糖苷酶B抗体的琼脂糖凝胶处理成纤维细胞提取物，将来自5名法布里病患者和5名对照的成纤维细胞的α-半乳糖苷酶A活性与α-半乳糖苷酶B分离。通过这些独立的方法，已经表明在法布里病中存在残留的α-半乳糖苷酶A，其在免疫学上与来自对照的α-半乳糖苷酶A相似。所有患者和对照的α-半乳糖苷酶A对合成底物4-甲基伞形酮基-α-半乳糖苷具有相同的表观Km值。五分之四的患者具有耐热α-半乳糖苷酶A，而第五名患者具有与对照组相似的不耐热酶。在受试患者中，免疫活性α-半乳糖苷酶A的量似乎减少。
The α-galactosidase A activity from fibroblasts of five Fabry patients and five controls has been separated from α-galactosidase B through small DEAE-cellulose columns and in some experiments by treatment of the fibroblast extracts with Sepharose coupled to anti-α-galactosidase B antibodies. By these independent methods, it has been shown that there is a residual α-galactosidase A in Fabry's disease, which is immunologically similar to the α-galactosidase A from the controls. The α-galactosidase A from all of the patients and controls has the same apparent Kmvalue for the synthetic substrate 4-methylumbelliferyl-α-galactoside. Four out of five patients have a thermostable α-galactosidase A, while the fifth has a thermolabile enzyme like that from the controls. The amount of immunologically active α-galactosidase A seems to be decreased in the patients tested.