title: Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors: Center of Excellence in Environmental Toxicology, University of Pennsylvania, Philadelphia, PA 19104, USA.|Penn SRP Center, University of Pennsylvania, Philadelphia, PA 19104, USA.|Department of Systems Pharmacology & Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
authors: Andrew J
authors: AJ
authors: Worth
authors: Center of Excellence in Environmental Toxicology, University of Pennsylvania, Philadelphia, PA 19104, USA.|Department of Systems Pharmacology & Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
authors: Sankha S
authors: SS
authors: Basu
authors: Department of Systems Pharmacology & Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.|Departments of Neurology & Pediatrics, The Children's Hospital of Philadelphia & the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
authors: Eric C
authors: EC
authors: Deutsch
authors: Penn SRP Center, University of Pennsylvania, Philadelphia, PA 19104, USA.|Department of Biostatistics & Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
authors: Wei-Ting
authors: WT
authors: Hwang
authors: Center of Excellence in Environmental Toxicology, University of Pennsylvania, Philadelphia, PA 19104, USA.|AJ Drexel Autism Institute, Drexel University, Philadelphia, PA 19104, USA.
authors: Nathaniel W
authors: NW
authors: Snyder
authors: Departments of Neurology & Pediatrics, The Children's Hospital of Philadelphia & the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
authors: David R
authors: DR
authors: Lynch
authors: Center of Excellence in Environmental Toxicology, University of Pennsylvania, Philadelphia, PA 19104, USA.|Penn SRP Center, University of Pennsylvania, Philadelphia, PA 19104, USA.|Department of Systems Pharmacology & Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
authors: Ian A
authors: IA
authors: Blair
mesh_terms: D001792:Blood Platelets / Q000378:metabolism*; D002648:Child; D002853:Chromatography, Liquid / Q000379:methods*; D005260:Female; D005621:Friedreich Ataxia / Q000378:metabolism*; D006801:Humans; D007554:Isotopes; D008297:Male; D013058:Mass Spectrometry / Q000379:methods*
chemical_list: D007554:Isotopes