Marie J, Zanella A, Vives-Corrons J L, Najman A, Kahn A
Clin Chim Acta. 1979 Apr 2;93(1):61-9. doi: 10.1016/0009-8981(79)90245-6.
Six new defective pyruvate kinase variants have been characterized in patients suffering from chronic hemolysis. Partially purified enzyme variants exhibited various anomalies from immunological, kinetic, stability and electrophoretic points of view. The significance of the electrophoretic anomalies has been interpreted in view of the normal post-synthetic maturation of the precursor enzyme L'4 into L2L'2 and L4, and the ability of trypsin to induce in vitro the transition L'4 leads to L4 has been tested. One defective enzyme existed in a single L'4 form and could not be transformed by trypsin into L4. In three cases slow-moving L'4 and L2L'2 forms were transformed by trypsin into an abnormal slow-moving L4 form. In the last two observations the L'4 and L2L'2 forms exhibited normal mobility and were normally transformed by trypsin into L4. The relevance of these data to the functional anomalies of the defective variants and to the nature of the primary genetic anomaly giving rise to the congenital defects in erythrocyte pyruvate kinase is discussed.
在患有慢性溶血的患者中已鉴定出六种新的丙酮酸激酶缺陷变体。从免疫学、动力学、稳定性和电泳角度来看，部分纯化的酶变体表现出各种异常。鉴于前体酶L'4正常的合成后成熟为L2L'2和L4，对电泳异常的意义进行了解释，并测试了胰蛋白酶在体外诱导L'4向L4转变的能力。一种缺陷酶以单一的L'4形式存在，不能被胰蛋白酶转化为L4。在三个病例中，迁移缓慢的L'4和L2L'2形式被胰蛋白酶转化为异常的迁移缓慢的L4形式。在最后两个观察结果中，L'4和L2L'2形式表现出正常的迁移率，并被胰蛋白酶正常转化为L4。讨论了这些数据与缺陷变体的功能异常以及导致红细胞丙酮酸激酶先天性缺陷的原发性基因异常性质的相关性。
