Complex I defect in muscle from patients with Huntington's disease
Complex I defect in muscle from patients with Huntington's disease
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DOI：
10.1002/ana.410430321
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发表时间：
1998-03-01
影响因子：
11.2
通讯作者：
Cabello, A
中科院分区：
文献类型：
--
作者：
Arenas, J;Campos, Y;Cabello, A
我们在亨廷顿病(HD)患者的肌肉中发现了线粒体呼吸链复合体I的可变缺陷，严重程度从对照组的25%到63%不等。CAG三联体扩张最大者为最严重的缺陷。肌肉形态表现为肌肉病理性改变，如蛾咬纤维、成角度纤维、肌膜下氧化活性增强，或线粒体数量增加并伴有异常隆起。通过聚合酶链式反应(PCR)分析发现，在复合体I缺陷最严重的患者肌肉中存在多个线粒体DNA缺失。我们的数据进一步支持了HD患者肌肉中能量缺陷和氧化损伤的参与。
We found a variable defect of complex I of the mitochondrial respiratory chain, ranging in severity from 25% to 63% of control values, in muscle of patients with Huntington's disease (HD). The most severe defect was observed in the patient with the greatest expansion of CAG triplets. Muscle morphology showed myopathic changes such as moth-eaten fibers, angulated fibers, increased subsarcolemmal oxidative activities, or an increased number of enlarged mitochondria with abnormal cristae. Multiple mitochondrial DNA deletions were found by polymerase chain reaction (PCR) analysis in muscle of the patient with the most severe defect of complex I. Our data further support the involvement of energetic defects and oxidative damage in muscle of patients with HD.