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Friedreich's ataxia: malic enzyme activity in cellular fractions of cultured skin fibroblasts

Published online by Cambridge University Press:  18 September 2015

S.B. Melançon ,
R. Cloutier ,
M. Potier ,
L. Dallaire ,
M. Vanasse ,
G. Geoffroy  and
A. Barbeau
S.B. Melançon
Affiliation:
Section de Génétique Médicale, Centre de Recherche Pédiatrique de l'Hôpital Sainte-Justine and the Clinical Research Institute of Montreal
R. Cloutier
Affiliation:
Section de Génétique Médicale, Centre de Recherche Pédiatrique de l'Hôpital Sainte-Justine and the Clinical Research Institute of Montreal
M. Potier
Affiliation:
Section de Génétique Médicale, Centre de Recherche Pédiatrique de l'Hôpital Sainte-Justine and the Clinical Research Institute of Montreal
L. Dallaire
Affiliation:
Section de Génétique Médicale, Centre de Recherche Pédiatrique de l'Hôpital Sainte-Justine and the Clinical Research Institute of Montreal
M. Vanasse
Affiliation:
Section de Génétique Médicale, Centre de Recherche Pédiatrique de l'Hôpital Sainte-Justine and the Clinical Research Institute of Montreal
G. Geoffroy
Affiliation:
Section de Génétique Médicale, Centre de Recherche Pédiatrique de l'Hôpital Sainte-Justine and the Clinical Research Institute of Montreal
A. Barbeau*
Affiliation:
Section de Génétique Médicale, Centre de Recherche Pédiatrique de l'Hôpital Sainte-Justine and the Clinical Research Institute of Montreal
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal, Quebec, Canada, H2W IR7
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Abstract

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We have measured the activity of malic enzyme NADP+ dependent in the nuclear, mitochondrial, lysosomal and cytosolic fractions of cultured skin fibroblasts from twelve patients with Friedreich's ataxia and nine control subjects. Hexosaminidase, cytochrome-C-oxidase, lactate dehydrogenase and malic enzyme NAD+ dependent were used as marker enzymes. The activity of malic enzyme NADP+ dependent was not significantly reduced in the mitochondrial fraction of patients with Friedreich's ataxia as compared with controls. When corrected for possible contamination between mitochondrial and cytosolic fractions, malic enzyme NADP+ dependent activity was still not significantly reduced in patients with Friedreich's ataxia. Unless critical methodological differences were overlooked in this or previously published studies, we conclude that mitochondrial malic enzyme deficiency is not the primary genetic defect underlying Friedreich's ataxia.

Type
C—Biochemistry
Information
Canadian Journal of Neurological Sciences , Volume 11 , Issue S4 , November 1984 , pp. 637 - 642
Copyright
Copyright © Canadian Neurological Sciences Federation 1984

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