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

Bioanalysis. 2015;7(15):1843-55. doi: 10.4155/bio.15.118.


Background: Friedreich's ataxia (FRDA) is an autosomal recessive disease with metabolic abnormalities that have been proposed to play an important role in the resulting neurodegeneration and cardiomyopathy. The inability to access the highly affected neuronal and cardiac tissues has hampered metabolic evaluation and biomarker development.

Methods: Employment of a LC-MS-based method to determine whether platelets isolated from patients with FRDA exhibit differentiable metabolism compared with healthy controls.

Results: 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.

Conclusion: Our 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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Platelets / metabolism*
  • Child
  • Chromatography, Liquid / methods*
  • Female
  • Friedreich Ataxia / metabolism*
  • Humans
  • Isotopes
  • Male
  • Mass Spectrometry / methods*


  • Isotopes