泰-萨克斯病和桑德霍夫病中的己糖胺酶C

Hexosaminidase C in Tay-Sachs and Sandhoff disease.

Penton E, Poenaru L, Dreyfus J C

Biochim Biophys Acta. 1975 May 23;391(1):162-9. doi: 10.1016/0005-2744(75)90162-x.

Abstract

Hexosaminidase C has been purified from human placenta. Complete separation from hexosaminidases A and B was achieved. 2. The following properties of hexosaminidase C differ from those of the A and B isozymes. Presence in the supernatant rather than the lysosomes, neutral pH optimum, higher molecular weight, lack of activity on beta-N-acetylgalactosamine derivatives, and lack of immunological relationship. 3. Hexosaminidase C is active in patients deficient in hexosaminidases A and B and can be recognized by its characteristic electrophoretic mobility. It is concluded that the genetic origin of hexosaminidase C is probably different from that of hexosaminidases A and B.

摘要

己糖胺酶C已从人胎盘中纯化出来，实现了与己糖胺酶A和B的完全分离。2. 己糖胺酶C的以下特性与A和B同工酶不同。存在于上清液而非溶酶体中，最适pH为中性，分子量较高，对β-N-乙酰半乳糖胺衍生物无活性，且缺乏免疫相关性。3. 己糖胺酶C在缺乏己糖胺酶A和B的患者中具有活性，可通过其特征性电泳迁移率识别。得出的结论是，己糖胺酶C的遗传起源可能与己糖胺酶A和B不同。