Abstract
Pyruvate dehydrogenase complex (PDHC) activity was measured in cultured fibroblasts from 12 patients with Friedreich's ataxia (FA), and in 1 patient with lactic acidosis and ataxia.
The activities obtained after extraction of PDHC by different methods were compared. Triton-X-100 extraction yielded enzyme activities 5 to 10 times greater than those obtained with the older methods. With this sensitive technique, PDHC activity was markedly deficient in fibroblasts from the patient with lactic acidosis and ataxia but it was normal in the fibroblasts from FA patients. Mg++activation of the PDHC in FA fibroblasts was normal.
Sommario
Il complesso enzimatico piruvico-deidrogenasi (PDHC) è stato misurato in fibroblasti coltivati da 12 pazienti con atassia di Friedreich ed 1 paziente con acidosi lattica e atassia.
Le attività enzimatiche ottenute con diversi metodi di estrazione del PDHC sono stati confrontati.
La estrazione con Triton-X-100 permetteva di ottenere attività enzimatiche da 5 a 10 volte più elevate di quelle ottenute con i metodi precedenti. Con questo sensibile metodo l'attività PDHC era molto ridotta nei fibroblasti del paziente con acidosi lattica e atassia: l'attività era invece normale nei fibroblasti dei pazienti con atassia di Friedreich. La attivazione del PDHC nei fibroblasti dei pazienti con Friedreich era normale.
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Uziel, G., Bottacchi, E., Moschen, G. et al. Pyruvate-dehydrogenase complex in ataxic patients: Enzyme deficiency in ataxic encephalopathy plus lactic acidosis and normal activity in Friedreich ataxia. Ital J Neuro Sci 3, 317–321 (1982). https://doi.org/10.1007/BF02043580
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DOI: https://doi.org/10.1007/BF02043580