Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy
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DOI：
10.1016/j.mito.2007.10.008
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发表时间：
2008-03-01
期刊：
影响因子：
4.4
通讯作者：
Paquis-Flucklinger, V.
中科院分区：
文献类型：
--
作者：
Bannwarth, S.;Procaccio, V.;Paquis-Flucklinger, V.
线粒体基因组的突变是导致许多患者呼吸链缺陷的原因。我们使用了一种基于错配特异性DNA内切酶“Surveyor(TM)核酸酶”的策略，在50名具有神经肌肉特征、提示呼吸链功能障碍的患者中进行了完整的线粒体DNA筛查。我们在20%的患者中发现了线粒体DNA突变(10/50)。在已确定的突变中，有四个在任何线粒体数据库中都没有发现，以前也没有报道过。我们还证实，线粒体DNA多态经常被发现处于异质性状态(共鉴定出15个不同的多态，其中5个是新发现的)。(C)2007年Elsevier B.V.和线粒体研究会。版权所有。
Mutations of mitochondrial genome are responsible for respiratory chain defects in numerous patients. We have used a strategy, based on the use of a mismatch-specific DNA endonuclease named "Surveyor (TM) Nuclease", for screening the entire mtDNA in a group of 50 patients with neuromuscular features, suggesting a respiratory chain dysfunction. We identified mtDNA mutations in 20% of patients (10/50). Among the identified mutations, four are not found in any mitochondrial database and have not been reported previously. We also confirm that mtDNA polymorphisms are frequently found in a heteroplasmic state (15 different polymorphisms were identified among which five were novel). (C) 2007 Elsevier B.V. and Mitochondria Research Society. All rights reserved.