PCR Analysis of platelet mtDNA: Lack of specific changes in Parkinson's disease
PCR Analysis of platelet mtDNA: Lack of specific changes in Parkinson's disease
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血小板线粒体 DNA PCR 分析：帕金森病缺乏特异性变化
DOI：
10.1002/mds.870080114
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发表时间：
1993
影响因子：
8.6
通讯作者：
D. D. Di Monte
中科院分区：
文献类型：
--
作者：
M. Sandy;J. Langston;Martyn T. Smith;D. D. Di Monte
线粒体DNA（mtDNA）内的改变被推测为帕金森病患者血小板、纹状体肌肉和脑组织中观察到的线粒体复合物I活性不足的基础。在这里，我们利用聚合酶链反应（PCR）来分析从未服药的早期帕金森病患者（n =8）和年龄匹配的cantrol（n =6）的血小板中获得的mtDNA，以确定是否存在等于或大于50-100个碱基对的缺失或添加。最初的注意力集中在检测一个4.977 kb的缺失，以前发现在帕金森病患者和一些老年对照的大脑。事实上，在所有帕金森病患者的血小板mtDNA中观察到约5.0 kb的大缺失。然而，在所有年龄匹配的对照组以及一组年轻健康受试者（n = 5）中也发现了该缺陷。此外，我们通过对编码7个复合物I多肽的4个mtDNA片段进行PCR分析，寻找帕金森病患者血小板mtDNA中存在较小变化的情况。在任何疾病或年龄匹配的对照样本中，在mtDNA的这四个区域内均未检测到大的缺失或添加。我们的结论是：（a）一个4.977 kb的缺失显然存在于所有个体的血小板mtDNA亚群中，（B）线粒体DNA中没有宏序列改变可能是帕金森病患者血小板线粒体中复合物I活性缺乏的基础。
An alteration within the mitochondrial DNA (mtDNA) has been hypthesized to underlie the deficiencies in mitochondrial complex I activity observed in the platelets, striatal muscle, and brain tissue of individuals with Parkinson's disease. Here we utilized the polymerase chain reaction (PCR) to analyze mtDNA obtained from the platelets of nonmedicated patients with early Parkinson's disease (n =8) and aged‐matched cantrols (n =6) for the presence of deletion(s) or addition(s) equal to or greater than 50–100 base pairs. Initial attention was focused upon detecting a 4.977 kb deletion previously found in the brains of parkinsonian patients and some aged controls. Indeed, a large deletion of approximately 5.0 kb was observed in the platelet mtDNA from all parkinsonian individuals. However, this defect was also found in all age‐matched controls as well as in a group of young healthy subjects (n = 5). In addition, we searched for the presence of smaller changes in platelet mtDNA from parkinsonian patients by PCR analysis of four mtDNA segments that code for seven of the complex I polypeptides. No large deletions or additions were detected within these four regions of mtDNA in any of the disease or age‐matched control samples. We conclude that (a) a 4.977 kb deletion is apparently present in a subpopulation of platelet mtDNA from all individuals, and (b) no macrosequence alteration in mtDNA is likely to underlie the deficiency in complex I activity reported in platelet mitochondria from parkinsonian patients.
影响因子：
14.9
作者：
CORTOPASSI, GA;ARNHEIM, N
通讯作者：
ARNHEIM, N
影响因子：
56.9
作者：
SCHON, EA;RIZZUTO, R;DIMAURO, S
通讯作者：
DIMAURO, S
影响因子：
56.9
作者：
WALLACE, DC;SINGH, G;NIKOSKELAINEN, EK
通讯作者：
NIKOSKELAINEN, EK