Mitochondrial malic enzyme in Friedreich's ataxia: failure to demonstrate reduced activity in cultured fibroblasts

Mitochondrial and cytosolic malic enzymes were assayed radiochemically in fibroblasts from six patients suffering from Friedreich's ataxia in order to verify earlier reports of abnormalities in these enzymes. No abnormalities could be detected in the activities of either enzyme. On cellulose acetate electrophoresis a band of enzyme activity corresponding to the mitochondrial isoenzyme was detectable contrary to earlier reports. Possible explanations for the disparity of results between different laboratories are discussed.