弗里德里希共济失调症的肝线粒体功能障碍。
Hepatic mitochondrial dysfunction in Friedreich ataxia.
机构信息
Department of Neurology, Ruhr-University, St. Josef-Hospital, Bochum, Germany.
出版信息
BMC Neurol. 2011 Nov 15;11:145. doi: 10.1186/1471-2377-11-145.
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.
摘要
背景
由于呼吸链损伤导致的线粒体功能障碍是弗里德赖希共济失调发病机制的一个关键特征。弗里德赖希共济失调影响神经系统、心脏和胰腺。
方法
我们通过 16 例弗里德赖希共济失调患者和匹配的健康对照者的（13）C-蛋氨酸呼吸试验评估了肝线粒体功能。
结果
患者在 90 分钟内呼出的（13）CO2 量明显减少。与对照组相比，最大呼气（13）CO2 恢复百分比剂量降低。
结论
（13）C-蛋氨酸呼吸试验表明弗里德赖希共济失调存在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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