Hepatic mitochondrial dysfunction in Friedreich Ataxia

BMC Neurology 2011, 11:145 doi:10.1186/1471-2377-11-145

OPEN ACCESS

Sven H Stüwe1, Oliver Goetze2,3, Larissa Arning4, Matthias Banasch2, Wolfgang E Schmidt2, Ludger Schöls5, 6,Carsten Saft1

1 Department of Neurology, Ruhr-University, St. Josef-Hospital, Bochum, Germany
2 Department of Internal Medicine I, Ruhr-University, St. Josef-Hospital, Bochum, Germany
3 Division of Gastroenterology and Hepatology, University Hospital Zurich, Switzerland
4 Department of Human Genetics, Ruhr-University Bochum, Germany
5 Department of Neurology and Hertie Institute for Clinical Brain Research, Tübingen, Germany
6 German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany

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 13C-methionine-breath-test in 16 Friedreich ataxia patients and matched healthy controls.
Results: Patients exhaled significantly smaller amounts of 13CO2 over 90 minutes. Maximal exhaled percentage dose of 13CO2 recovery was reduced compared to controls.
Conclusions: 13C-methionine-breath-test indicates subclinical hepatic mitochondrial
dysfunction in Friedreich ataxia but did not correlate with GAA repeat lengths, disease duration or disease severity.