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Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets

An LC-MS-based method was used to determine whether platelets isolated from patients with FRDA exhibit differentiable metabolism compared with healthy controls. Isotopologue analysis showed a marked decrease in glucose incorporation with a concomitant increase in palmitate-derived acyl-CoA thioesters in FRDA platelets compared with controls. These findings demonstrate that platelets can be used as a surrogate tissue for in vivo biomarker studies to monitor new therapeutic approaches for the treatment of FRDA.

Read more: Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets


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Jen Farmer

Jen Farmer

Executive Director

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