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Pyruvate Dehydrogenase, Lipoamide Dehydrogenase and Citrate Synthase Activity in Fibroblasts from Patients with Friedreich's and Charlevoix-Saguenay Ataxia

Published online by Cambridge University Press:  18 September 2015

S. B. Melancon ,
M. Potier ,
L. Dallaire ,
P. Rollin ,
G. Fontaine  and
B. Grenier
S. B. Melancon
Affiliation:
le Centre de Recherche Pédiatrique, Hôpital Sainte-Justine Département de Pédiatrie, Université de Montréal
M. Potier
Affiliation:
le Centre de Recherche Pédiatrique, Hôpital Sainte-Justine Département de Pédiatrie, Université de Montréal
L. Dallaire
Affiliation:
le Centre de Recherche Pédiatrique, Hôpital Sainte-Justine Département de Pédiatrie, Université de Montréal
P. Rollin
Affiliation:
le Centre de Recherche Pédiatrique, Hôpital Sainte-Justine Département de Pédiatrie, Université de Montréal
G. Fontaine
Affiliation:
le Centre de Recherche Pédiatrique, Hôpital Sainte-Justine Département de Pédiatrie, Université de Montréal
B. Grenier
Affiliation:
le Centre de Recherche Pédiatrique, Hôpital Sainte-Justine Département de Pédiatrie, Université de Montréal
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Summary

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The activity of lipoamide dehydrogenase and two closely related enzymes was studied simultaneously in early, mid, 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 ataxies. Mean citrate synthase activity was higher in ataxie 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.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 6 , Issue 2 , May 1979 , pp. 241 - 242
Copyright
Copyright © Canadian Neurological Sciences Federation 1979

References

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