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Open Access Research article

Hepatic mitochondrial dysfunction in Friedreich Ataxia

Sven H Stüwe1, Oliver Goetze23, Larissa Arning4, Matthias Banasch2, Wolfgang E Schmidt2, Ludger Schöls56 and Carsten Saft1*

Author Affiliations

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

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

Published: 15 November 2011

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.

Keywords:
13C-methionine; breath test; Friedreich; Ataxia; neurodegeneration