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Friedreich's Ataxia in Northern Italy II. Biochemical Studies in Cultured Cells

Published online by Cambridge University Press:  18 September 2015

B. Bertagnolio ,
G. Uziel ,
E. Bottachi ,
G. Crenna ,
A. D’Angelo  and
S. Di Donato
B. Bertagnolio
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
G. Uziel
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
E. Bottachi
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
G. Crenna
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
A. D’Angelo
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
S. Di Donato
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
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Pyruvate and palmitate oxidations by cultured fibroblasts suspensions were measured in optimized conditions and proved to be within normal range in the cells from Friedreich's patients. However, when pyruvate oxidation was measured by direct assay of the pyruvate dehydrogenase complex, this enzyme activity proved to be significantly lower in Friedreich's than in controls' cells. These abnormalities were not observed when the cells were sonicated. Moreover, lipoamide dehydrogenase activity. Km and Vmax were within the normal range in Friedreich 's cells. These data suggest that the low activities of the PDH complex are not a primary defect in Friedreich's ataxia, but are more likely related lo membrane abnormalities in Friedreich's cells.

Type
Quebec Cooperative Study of Friedreich's Ataxia
Information
Canadian Journal of Neurological Sciences , Volume 7 , Issue 4 , November 1980 , pp. 409 - 412
Copyright
Copyright © Canadian Neurological Sciences Federation 1980

References

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