Hepatic mitochondrial dysfunction in Friedreich Ataxia

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 13CO2over 90 minutes. Maximal exhaled percentage dose of 13CO2recovery 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. © 2011 Stüwe et al; licensee BioMed Central Ltd.