The ‘common deletion’ is not increased in parkinsonian substantia nigra as shown by competitive polymerase chain reaction
The ‘common deletion’ is not increased in parkinsonian substantia nigra as shown by competitive polymerase chain reaction
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竞争性聚合酶链反应表明，帕金森病黑质中的“常见缺失”并未增加
DOI：
10.1002/mds.870120504
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发表时间：
1997
影响因子：
8.6
通讯作者：
M. Graeber
中科院分区：
文献类型：
--
作者：
S. Kösel;R. Egensperger;N. Schnopp;M. Graeber
先前的研究已经通过使用半定量技术估计了帕金森病（PD）患者组织中携带4，977个碱基对“常见缺失”的线粒体DNA（mtDNA）的水平。这种缺失的mtDNA在PD发病机制中的作用仍然存在争议。我们应用竞争性聚合酶链反应对经神经病理学证实的路易体帕金森综合征患者的黑质和其他脑区缺失的mtDNA进行了精确定量，此外，还对CYP 2D 6 G1、934 A和CYP 2D 6C 2、938 T等位基因和线粒体ND 2进行了基因分型。（核苷酸5，460）和谷氨酰胺（核苷酸4，336）序列变体的转移RNA。帕金森病患者的大脑显示黑质中有1-3%的线粒体DNA缺失，即缺失水平并不高于年龄匹配的对照组。我们的研究结果表明，PD中观察到的呼吸链复合物I的缺陷主要不是由于“共同缺失”。
Previous studies have estimated levels of mitochondrial DNA (mtDNA) carrying the 4,977‐base‐pair 'common deletion' in tissues from patients with Parkinson's disease (PD) by using semiquantitative techniques. The role of this deleted mtDNA species in the pathogenesis of PD has remained controversial. We have applied competitive polymerase chain reaction to achieve exact quantitation of deleted mtDNA in the substantia nigra and additional brain regions of cases with neuropathologically confirmed Lewy‐body parkinsonism, In addition, genotyping was carried out for CYP2D6G1,934A and CYP2D6C2,938Talleles and the mitochondrial ND2 (nucleotide 5,460) and transfer RNA for glutamine (nucleotide 4,336) sequence variants. Parkinsonian brains showed 1–3% deleted mtDNA in the substantia nigra, that is, deletion levels were not higher than in age‐matched controls. Our findings suggest that the defect in complex I of the respiratory chain observed in PD is not primarily due to the ‘common deletion’.
影响因子：
4.4
作者：
SHOFFNER, JM;BROWN, MD;WALLACE, DC
通讯作者：
WALLACE, DC
DOI：
10.1073/pnas.89.16.7370
发表时间：
1992-08-15
影响因子：
11.1
作者：
CORTOPASSI, GA;SHIBATA, D;ARNHEIM, N
通讯作者：
ARNHEIM, N