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. 2011 Nov 15:11:145.
doi: 10.1186/1471-2377-11-145.

Hepatic mitochondrial dysfunction in Friedreich ataxia

Sven H Stüwe  1 , Oliver Goetze, Larissa Arning, Matthias Banasch, Wolfgang E Schmidt, Ludger Schöls, Carsten Saft
Affiliations

Hepatic mitochondrial dysfunction in Friedreich ataxia

Sven H Stüwe et al. BMC Neurol. .

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.

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Figures

Figure 1
Figure 1
Mean recovered 13CO2 as function of time (PDR [%/h]) (A) and mean cumulative exhaled 13CO2 (cPDR [%]) (B) of 16 FRDA patients (circle) and 16 healthy controls (square); Error bares = ± SEM; * - significant difference between the groups (p < 0.05); ‡ - explorative difference between the groups (p < 0.05).
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