title: Pyruvate dehydrogenase, lipoamide dehydrogenase and citrate synthase activity in fibroblasts from patients with Friedreich's and Charlevoix-Saguenay ataxia.
abstract: The activity of lipoamide dehydrogenase and two closely related enzymes was studied simultaneously in early, mild, and late passage fibroblast cultures. Friedreich's ataxia fibroblasts tended to lose pyruvate dehydrogenase and citrate synthase activities, while lipoamide dehydrogenase activity remained constant with aging of the cells. Mean pyruvate dehydrogenase activity was lower over-all in fibroblasts from ataxics. Mean citrate synthase activity was higher in ataxic fibroblasts. Present tissue culture media do not represent the best conditions in which to reproduce cofactor binding defects such as those found in other genetic diseases with structural enzyme mutations.
mesh_terms: D001259:Ataxia / Q000201:enzymology* / Q000235:genetics; D002478:Cells, Cultured; D002950:Citrate (si)-Synthase / Q000378:metabolism*; D008058:Dihydrolipoamide Dehydrogenase / Q000378:metabolism*; D005347:Fibroblasts / Q000201:enzymology*; D005621:Friedreich Ataxia / Q000201:enzymology*; D006801:Humans; D009128:Muscle Spasticity; D007652:Oxo-Acid-Lyases / Q000378:metabolism*; D011768:Pyruvate Dehydrogenase Complex / Q000378:metabolism*; D013577:Syndrome
chemical_list: D011768:Pyruvate Dehydrogenase Complex; D008058:Dihydrolipoamide Dehydrogenase; D002950:Citrate (si)-Synthase; D007652:Oxo-Acid-Lyases