Abstract
Methylene blue (MB)-stimulated assays of pyruvate oxidation in cultured skin fibroblasts were used to determine if partial defects in pyruvate metabolism could be demonstrated in cells from patients with Friedreich ataxia (FA) or Charcot-Marie-Tooth disease (CMT). In both a whole cell and a homogenate assay, measuring 14CO2 production from labeled pyruvate and lactate, respectively, MB increased pyruvate oxidation 2-to3-fold in all cell lines tested. Pyruvate oxidation in 11 control lines, as measured in the MB-stimulated whole cell assay, was 23.11±1.41 pkat/mg cell protein (mean±S.E.), not significantly different from that found in 4 FA lines (23.8±2.3) or cell lines from 6 related CMT patients (23.9±1.9). In the MB-stimulated homogenate assay, pyruvate oxidation in 4 normal cell lines (9.3±2.4) was not significantly different from that of 4 FA lines (7.0±2.4) or the 6 CMT lines (14.2±2.0). These results provide additional evidence that a primary defect in pyruvate oxidation is not present in FA or CMT patients.
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Wilson, W., Kelly, T. 874 NORMAL PYRUVATE OXIDATION IN FRIEDREICH ATAXIA AND CHARCOT-MARIE-TOOTH DISEASE FIBROBLASTS. Pediatr Res 19, 256 (1985). https://doi.org/10.1203/00006450-198504000-00904
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DOI: https://doi.org/10.1203/00006450-198504000-00904
