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局灶性和全身性肌张力障碍患者血细胞中的呼吸链和线粒体脱氧核糖核酸

Respiratory chain and mitochondrial deoxyribonucleic acid in blood cells from patients with focal and generalized dystonia.

作者信息

Reichmann H, Naumann M, Hauck S, Janetzky B

机构信息

Department of Neurology, University of Würzburg, Germany.

出版信息

Mov Disord. 1994 Nov;9(6):597-600. doi: 10.1002/mds.870090603.

DOI:10.1002/mds.870090603
PMID:7845398
Abstract

An increasing number of neurodegenerative diseases seem to be associated with or even due to disturbances of cerebral energy metabolism. One generally accepted example is complex I deficiency in substantia nigra from patients with Parkinson's disease. Reports on a complex I defect in platelets from patients with dystonia led us to check for disturbances of the respiratory chain or of the mitochondrial genome in isolated mitochondria from patients with focal or generalized dystonia. We could not confirm the idea of mitochondrial disturbance in platelets from patients with dystonia because we did not find abnormal enzyme activities or any deletions of the mitochondrial genome. Thus, we do not think that blood cells such as platelets can serve as markers for neurodegenerative disorders such as dystonia.

摘要

越来越多的神经退行性疾病似乎与大脑能量代谢紊乱有关,甚至是由其引起的。一个被广泛接受的例子是帕金森病患者黑质中的复合体I缺乏。有关肌张力障碍患者血小板中复合体I缺陷的报道促使我们检查局灶性或全身性肌张力障碍患者分离线粒体中的呼吸链或线粒体基因组是否存在紊乱。我们无法证实肌张力障碍患者血小板中线粒体紊乱的观点,因为我们没有发现异常的酶活性或线粒体基因组的任何缺失。因此,我们认为血小板等血细胞不能作为肌张力障碍等神经退行性疾病的标志物。

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Respiratory chain and mitochondrial deoxyribonucleic acid in blood cells from patients with focal and generalized dystonia.局灶性和全身性肌张力障碍患者血细胞中的呼吸链和线粒体脱氧核糖核酸
Mov Disord. 1994 Nov;9(6):597-600. doi: 10.1002/mds.870090603.
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引用本文的文献

1
A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia.
Neurogenetics. 2003 Aug;4(4):199-205. doi: 10.1007/s10048-003-0150-3. Epub 2003 May 17.