Normal fibroblast mitochondrial malic enzyme activity in Friedreich’s ataxia

Raymond J. Fernandez, Frank Civantos, Ellen Tress, William A. Maltese, Darryl C. De Vivo

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

Mitochondrial and cytoplasmic malic isoenzymes were assayed fluorometrically in digitonin-fractionated fibroblasts from three patients with Friedreich's ataxia (FA). Normal activity was found, failing to verify an earlier report of reduced fibroblast mitochondrial malic enzyme activity in FA. The previously reported disturbance in fibroblast mitochondrial malic enzyme may be an epiphenomenon in patients with the FA phenotype. Further studies are necessary to define the primary genetic defect in this inherited disorder.

Original languageEnglish (US)
Pages (from-to)869-872
Number of pages4
JournalNeurology
Volume36
Issue number6
StatePublished - Jun 1986
Externally publishedYes

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ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Fernandez, R. J., Civantos, F., Tress, E., Maltese, W. A., & De Vivo, D. C. (1986). Normal fibroblast mitochondrial malic enzyme activity in Friedreich’s ataxia. Neurology, 36(6), 869-872.