Maret A, Salvayre R, Troly M, Douste-Blazy L
Laboratoire de Biochimie, Faculté de Médecine, Toulouse, France.
Enzyme. 1990;43(2):99-106. doi: 10.1159/000468712.
Lymphoid cell lines from patients with infantile (type-2) and juvenile (type 3) Gaucher disease have been established by Epstein-Barr virus transformation and investigated and compared with the adult phenotype (type 1) with the view to enzymology. The enzymatic defect in glucosylceramide(GlcCer)-beta-glucosidase activity was more severe in type 2 and 3 than in type 1 cells. The mutant GlcCer-beta-glucosidase from our studied type 2 lymphoid cells was profoundly labile at pH 4.0 and 37 degrees C, whereas the residual GlcCer-beta-glucosidase from type 1 and type 3 were stable similar to the normal enzyme. In contrast to the distinct stability of the GlcCer-beta-glucosidases from the three phenotypes, the acid lability of the nonspecific membrane-bound beta-glucosidases from type 1, 2 and 3 were quite similar.
通过爱泼斯坦 - 巴尔病毒转化建立了来自婴儿型（2型）和青少年型（3型）戈谢病患者的淋巴样细胞系，并针对酶学进行了研究，并与成人表型（1型）进行了比较。2型和3型细胞中葡糖神经酰胺（GlcCer）-β-葡萄糖苷酶活性的酶缺陷比1型细胞更严重。我们研究的2型淋巴样细胞中的突变型GlcCer-β-葡萄糖苷酶在pH 4.0和37℃时极不稳定，而1型和3型细胞中的残留GlcCer-β-葡萄糖苷酶与正常酶相似，是稳定的。与三种表型的GlcCer-β-葡萄糖苷酶的明显稳定性相反，1型、2型和3型细胞中非特异性膜结合β-葡萄糖苷酶的酸不稳定性非常相似。
