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 13CO2 over 90 minutes. Maximal exhaled percentage dose of 13CO2 recovery 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.
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机译：背景由于呼吸链受损导致的线粒体功能障碍是Friedreich共济失调发病机理的关键特征。 Friedreich共济失调会影响神经系统，心脏和胰腺。方法采用 13 C-蛋氨酸呼气试验对16名弗里德里希共济失调患者和健康对照者进行肝线粒体功能评估。结果患者在90分钟内呼出的 13 CO 2 量明显减少。与对照组相比， 13 CO 2 恢复的最大呼出百分比剂量降低了。结论 13 C-蛋氨酸呼气试验表明弗里德赖希共济失调的亚临床肝线粒体功能障碍，但与GAA重复长度，疾病持续时间或疾病严重程度无关。
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