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NEUROLOGY 1983;33:780
© 1983 American Academy of Neurology

Friedreich's disease

IV. Reduced mitochondrial malic enzyme activity in heterozygotes

David A. Stumpf, MD, PhD, Janice K. Parks and W. Davis Parker, MD

Departments of Neurology and Pediatrics, School of Medicine, the University of Colorado Health Sciences Center, Denver, CO.

Friedreich's disease (FD) obligate heterozygotes have reduced mitochondrial malic enzyme (MEm) activity in cultured fibroblasts. This indicates that the MEm deficiency in homozygous affected patients is genetically determined. Heterozygote MEm activity was only 20% of the control mean activity, lower than the 50% expected in an autosomal-recessive disorder. This may result from negative interactions between mutant and normal subunits in the tetrameric enzyme. These data support the idea that MEm deficiency causes FD, but further studies are required to prove this hypothesis.

Address correspondence and reprint requests to Dr. Stumpf, Director of Pediatric Neurology, Box C229, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, Denver, CO 80262.

This work was supported by a Clinical Research Grant from the Muscular Dystrophy Association; NIH Program Project Grant No. HD08315, Center Grant No. HDO4024, and National Research Service Award Grant No. HD 07096–01, all from NICHD; Pediatric and Adult CRC Grant No. RR00069 from the General Clinical Research Centers Program of the Division of Research Resources; and funding from the Friedreich's Ataxia Group in America, Inc.

Accepted for publication August 12, 1982






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