Nixon P F, Kaczmarek M J, Tate J, Kerr R A, Price J
Eur J Clin Invest. 1984 Aug;14(4):278-81. doi: 10.1111/j.1365-2362.1984.tb01181.x.
Two techniques were used to seek variants of human erythrocyte transketolase and to test for any association of the Wernicke-Korsakoff syndrome, a thiamin-deficiency disease, with a particular variant of this thiamin-dependent enzyme. Apparent Km values for the cofactor thiamin diphosphate were similar for patients and controls. However, isoelectric focussing separated erythrocyte transketolase into different isoenzymes characterized by pI values in the range 6.6-9.2. Six distinct patterns of isoenzymes were found in thirty-six healthy control subjects. The isoenzyme pattern for thirty-nine out of forty-two patients suffering from the Wernicke-Korsakoff syndrome was identical to a pattern found in only eight of thirty-six control subjects, a highly significant association (P less than 0.001). This association suggests that a variant transketolase and thiamin deficiency together contribute to the pathogenesis of the brain damage of the Wernicke-Korsakoff syndrome by some mechanism independent of apparent Km values for thiamin diphosphate.
采用了两种技术来寻找人类红细胞转酮醇酶的变体，并检测硫胺素缺乏疾病韦尼克 - 科尔萨科夫综合征与这种硫胺素依赖性酶的特定变体之间是否存在关联。患者和对照组中辅因子硫胺素二磷酸的表观 Km 值相似。然而，等电聚焦将红细胞转酮醇酶分离成不同的同工酶，其特征在于 pI 值在 6.6 - 9.2 范围内。在三十六名健康对照受试者中发现了六种不同的同工酶模式。四十二名患有韦尼克 - 科尔萨科夫综合征的患者中，三十九名患者的同工酶模式与三十六名对照受试者中仅八名所具有的模式相同，这是一种高度显著的关联（P 小于 0.001）。这种关联表明，一种变体转酮醇酶和硫胺素缺乏共同通过某种独立于硫胺素二磷酸表观 Km 值的机制，促成了韦尼克 - 科尔萨科夫综合征脑损伤的发病机制。
