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Pyruvate Metabolism in Friedreich's Ataxia

Published online by Cambridge University Press:  18 September 2015

A. Barbea ,
R.F. Butterworth ,
T. Ngo ,
G. Breton ,
S. Melançon ,
D. Shapcott ,
G. Geoffroy  and
B. Lemieux
A. Barbea*
Affiliation:
Clinical Research Institute of Montreal; the Hôpital Ste-Justine de Montreal; The Centre Hospitalier Universitaire de Sherbrooke; Hopital Hôtel-Dieu de Montreal
R.F. Butterworth
Affiliation:
Clinical Research Institute of Montreal; the Hôpital Ste-Justine de Montreal; The Centre Hospitalier Universitaire de Sherbrooke; Hopital Hôtel-Dieu de Montreal
T. Ngo
Affiliation:
Clinical Research Institute of Montreal; the Hôpital Ste-Justine de Montreal; The Centre Hospitalier Universitaire de Sherbrooke; Hopital Hôtel-Dieu de Montreal
G. Breton
Affiliation:
Clinical Research Institute of Montreal; the Hôpital Ste-Justine de Montreal; The Centre Hospitalier Universitaire de Sherbrooke; Hopital Hôtel-Dieu de Montreal
S. Melançon
Affiliation:
Clinical Research Institute of Montreal; the Hôpital Ste-Justine de Montreal; The Centre Hospitalier Universitaire de Sherbrooke; Hopital Hôtel-Dieu de Montreal
D. Shapcott
Affiliation:
Clinical Research Institute of Montreal; the Hôpital Ste-Justine de Montreal; The Centre Hospitalier Universitaire de Sherbrooke; Hopital Hôtel-Dieu de Montreal
G. Geoffroy
Affiliation:
Clinical Research Institute of Montreal; the Hôpital Ste-Justine de Montreal; The Centre Hospitalier Universitaire de Sherbrooke; Hopital Hôtel-Dieu de Montreal
B. Lemieux
Affiliation:
Clinical Research Institute of Montreal; the Hôpital Ste-Justine de Montreal; The Centre Hospitalier Universitaire de Sherbrooke; Hopital Hôtel-Dieu de Montreal
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal H2W 1R7, Quebec, Canada
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Friedreich's ataxia patients show evidence of an abnormally elevated and prolonged response of pyruvate and lactate to a glucose load, with normal fasting levels. However, there is a bimodal distribution of this response with high and low pyruvate responders. This trait appears to be determined genetically, However, although in vivo tests suggest low oxidation of pyruvate, we were unable to confirm any in vitro impairment of each of the components of the pyruvate dehydrogenase (PDH) complex. We conclude that the defect is in the metabolic regulation of PDH, probably at the E3 (lipoamide dehydrogenase) step.

Type
Quebec Cooperative Study of Friedreich's Ataxia
Information
Canadian Journal of Neurological Sciences , Volume 3 , Issue 4 , November 1976 , pp. 379 - 338
Copyright
Copyright © Canadian Neurological Sciences Federation 1976

References

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