Hepatic mitochondrial dysfunction in Friedreich Ataxia

作者：Stuewe Sven H; Goetze Oliver; Arning Larissa; Banasch Matthias; Schmidt Wolfgang E; Schoels Ludger; Saft Carsten^*

来源：BMC Neurology, 2011, 11: 145.

DOI：10.1186/1471-2377-11-145

• C-13-methionine
• breath test
• Friedreich
• Ataxia
• neurodegeneration

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

• 出版日期2011-11-15