Hepatic mitochondrial dysfunction in Friedreich Ataxia

<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Methods</p> <p>We assessed hepatic mitochondrial function by ¹³C-methionine-breath-test in 16 Friedreich ataxia patients and matched healthy controls.</p> <p>Results</p> <p>Patients exhaled significantly smaller amounts of ¹³CO₂over 90 minutes. Maximal exhaled percentage dose of ¹³CO₂recovery was reduced compared to controls.</p> <p>Conclusions</p> <p>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.</p