AN ENZYMATIC AND IMMUNOCHEMICAL ANALYSIS OF TRANSKETOLASE IN FIBROBLASTS FROM WERNICKE-KORSAKOFF-SYNDROME

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.