帕金森病中的线粒体DNA分析。

Mitochondrial DNA analysis in Parkinson's disease.

作者信息

Schapira A H, Holt I J, Sweeney M, Harding A E, Jenner P, Marsden C D

机构信息

Department of Neurological Science, Royal Free Hospital School of Medicine, London, England.

出版信息

Mov Disord. 1990;5(4):294-7. doi: 10.1002/mds.870050406.

DOI:10.1002/mds.870050406

PMID:1979656

Abstract

The reduced form of nicotinamide adenine dinucleotide coenzyme Q reductase (complex I) activity has recently been shown to be deficient in the substantia nigra of patients dying with Parkinson's disease. This biochemical defect is identical to that produced by the neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), which also produces parkinsonism in humans. Complex I comprises 25 polypeptides, seven of which are encoded by mitochondrial DNA. Restriction fragment analysis of substantia nigra DNA from six patients with Parkinson's disease did not show any major deletion. In two cases, there were different novel polymorphisms that were not observed in control brain (n = 6) or blood (n = 34) samples.

摘要

最近研究表明，死于帕金森病的患者黑质中烟酰胺腺嘌呤二核苷酸辅酶Q还原酶（复合体I）的还原形式活性不足。这种生化缺陷与神经毒素1-甲基-4-苯基-1,2,3,6-四氢吡啶（MPTP）所导致的缺陷相同，MPTP在人类中也会引发帕金森综合征。复合体I由25种多肽组成，其中7种由线粒体DNA编码。对6例帕金森病患者黑质DNA进行的限制性片段分析未显示任何重大缺失。在两例患者中，发现了对照脑样本（n = 6）或血液样本（n = 34）中未观察到的不同新型多态性。