Hepatic mitochondrial dysfunction in Friedreich ataxia
Sven H Stüwe1, Oliver Goetze, Larissa Arning
1Department of Neurology, Ruhr-University, St. Josef-Hospital, Bochum, Germany.
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.
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