Immunological and catalytic quantitation of splenic glucocerebrosidase from the three clinical forms of Gaucher disease.
Immunological and catalytic quantitation of splenic glucocerebrosidase from the three clinical forms of Gaucher disease.
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对戈谢病三种临床形式的脾葡萄糖脑苷脂酶进行免疫学和催化定量。
DOI：
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发表时间：
1983
影响因子：
9.8
通讯作者：
R. Brady
中科院分区：
文献类型：
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作者：
P. Pentchev;B. Neumeyer;L. Svennerholm;C. Groth;R. Brady
成人非神经系统型戈谢病（I型）脾提取物中葡萄糖脑苷酶活性为正常人的15% +/- 7%，酶交叉反应物质（ECRM）滴度为正常人的54% +/- 9%。神经系统型戈谢病（II型和III型）患者脾组织提取物中ECRM的滴度与I型戈谢病脾脏中基本相同（正常的59% +/- 10%），但这些脾脏中葡萄糖脑苷酶的可测催化活性明显低于I型戈谢病脾脏（正常的2.3% +/- 0.6%）。因此，三种戈谢病患者脾脏中葡萄糖脑苷酶活性的减弱似乎源于一种结构突变的酶，这种酶的催化效率和抗原表达都发生了改变。
The enzymatic activity of glucocerebrosidase in splenic extracts of the adult nonneurological form of Gaucher disease (type I) was 15% +/- 7% of normal, and the titer of enzyme cross-reacting material (ECRM) in these spleens was 54% +/- 9% of normal. The titer of ECRM in splenic extracts of tissues obtained from patients with the neurological forms of Gaucher disease (types II and III) was essentially the same as in type I Gaucher spleens (59% +/- 10% of normal), but the measurable catalytic activity of glucocerebrosidase in these spleens was substantially lower than that found in type I Gaucher spleens (2.3% +/- 0.6% of normal). Thus, the attentuated glucocerebrosidase activity in spleens from all three forms of Gaucher disease appears to stem from a structurally mutated enzyme that is altered in its catalytic efficiency and possibly in its antigenic expression.