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NEUROLOGY 1986;36:869
© 1986 American Academy of Neurology

Normal fibroblast mitochondrial malic enzyme activity in Friedreich's ataxia

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

Departments of Neurology (Drs. Maltese and De Vivo) and Pediatrics (Dr. De Vivo), the Pediatric Neurology Divisional Laboratories (Dr. Fernandez, Ms. Tress, and Drs. Maltese and De Vivo), and the College of Physicians and Surgeons of Columbia University (Mr. Civantos), New York, NY.

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.

Address correspondence and reprint requests to Dr. De Vivo, Neurological Institute, 710 West 168th Street, New York, NY 10032.

Supported in part by USPHS grants NINCDS R01 NS17695, NCI R01 CA34569, and The William J. Matheson Fund for Child Neurology.

Accepted for publication October 30, 1985.




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[Abstract] [Full Text]


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