Bannwarth S, Procaccio V, Rouzier C, Fragaki K, Poole J, Chabrol B, Desnuelle C, Pouget J, Azulay J P, Attarian S, Pellissier J F, Gargus J J, Abdenur J E, Mozaffar T, Calvas P, Labauge P, Pages M, Wallace D C, Lambert J C, Paquis-Flucklinger V
Department of Medical Genetics, Archet 2 Hospital, CHU Nice, France.
Mitochondrion. 2008 Mar;8(2):136-45. doi: 10.1016/j.mito.2007.10.008. Epub 2007 Nov 6.
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 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).
线粒体基因组突变是导致众多患者呼吸链缺陷的原因。我们采用了一种基于使用名为“Surveyor核酸酶”的错配特异性DNA内切酶的策略，对一组50名具有神经肌肉特征、提示呼吸链功能障碍的患者进行了整个线粒体DNA（mtDNA）的筛查。我们在20%的患者（10/50）中鉴定出mtDNA突变。在鉴定出的突变中，有四个在任何线粒体数据库中均未发现，且此前也未被报道过。我们还证实，mtDNA多态性经常以异质性状态被发现（共鉴定出15种不同的多态性，其中五种是新发现的）。
