title: Hepatic mitochondrial dysfunction in Friedreich ataxia.
abstract: BACKGROUND
  Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas.
  
  
  METHODS
  We assessed hepatic mitochondrial function by (13)C-methionine-breath-test in 16 Friedreich ataxia patients and matched healthy controls.
  
  
  RESULTS
  Patients exhaled significantly smaller amounts of (13)CO(2) over 90 minutes. Maximal exhaled percentage dose of (13)CO(2) recovery was reduced compared to controls.
  
  
  CONCLUSIONS
  (13)C-methionine-breath-test indicates subclinical hepatic mitochondrial dysfunction in Friedreich ataxia but did not correlate with GAA repeat lengths, disease duration or disease severity.
authors.affiliation: Department of Neurology, Ruhr-University, St. Josef-Hospital, Bochum, Germany.
authors.forename: Sven H
authors.initials: SH
authors.lastname: Stüwe
authors.forename: Oliver
authors.initials: O
authors.lastname: Goetze
authors.forename: Larissa
authors.initials: L
authors.lastname: Arning
authors.forename: Matthias
authors.initials: M
authors.lastname: Banasch
authors.forename: Wolfgang E
authors.initials: WE
authors.lastname: Schmidt
authors.forename: Ludger
authors.initials: L
authors.lastname: Schöls
authors.forename: Carsten
authors.initials: C
authors.lastname: Saft
mesh_terms: D000328:Adult; D001944:Breath Tests / Q000379:methods*; D002250:Carbon Radioisotopes; D003430:Cross-Sectional Studies; D045853:Exhalation; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis / Q000209:etiology / Q000378:metabolism; D008297:Male; D008715:Methionine; D008875:Middle Aged; D008930:Mitochondria, Liver / Q000378:metabolism*
chemical_list: D002250:Carbon Radioisotopes; D008715:Methionine
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