Jung E H, Sheu K F, Blass J P
Dementia Research Service, Burke Medical Research Institute, Cornell University Medical College, White Plains, NY 10605.
J Neurol Sci. 1993 Feb;114(2):123-7. doi: 10.1016/0022-510x(93)90286-8.
Transketolase in cultured skin fibroblasts from three patients with Wernicke-Korsakoff syndrome (GM7504, 7505 and 7506) and matched controls was analyzed enzymatically and immunochemically with specific antisera generated against transketolase purified from human liver or red blood cells. The transketolase activity decreased by 45% in fibroblasts from the three Wernicke-Korsakoff patients, when compared to the activity in control cells. On immunoblots after SDS-PAGE, fibroblasts from the Wernicke-Korsakoff patients exhibited a 69-kDa species, a size similar to that of normal transketolase. The level of immunoreactivity was similar in the patient and control cells. The immunoblots of isoelectric focusing gels showed a major species of pI 8.6 with additional minor bands. However, the isoelectric focusing pattern of transketolase from the Wernicke-Korsakoff patients was also found in the majority of the control fibroblasts. Thus transketolase in fibroblasts from these Wernicke-Korsakoff patients is catalytically defective, but appears to be immunochemically normal.
利用针对从人肝脏或红细胞中纯化的转酮醇酶产生的特异性抗血清，对三名韦尼克-科尔萨科夫综合征患者（GM7504、7505和7506）以及匹配的对照的培养皮肤成纤维细胞中的转酮醇酶进行了酶学和免疫化学分析。与对照细胞中的活性相比，三名韦尼克-科尔萨科夫患者的成纤维细胞中转酮醇酶活性降低了45%。在SDS-PAGE后的免疫印迹中，韦尼克-科尔萨科夫患者的成纤维细胞呈现出一种69 kDa的条带，其大小与正常转酮醇酶相似。患者细胞和对照细胞中的免疫反应性水平相似。等电聚焦凝胶的免疫印迹显示主要条带的pI为8.6，并伴有其他次要条带。然而，在大多数对照成纤维细胞中也发现了韦尼克-科尔萨科夫患者转酮醇酶的等电聚焦图谱。因此，这些韦尼克-科尔萨科夫患者的成纤维细胞中的转酮醇酶在催化方面存在缺陷，但在免疫化学上似乎是正常的。
