Tanno Y, Tanaka K, Tsuji S
Nihon Rinsho. 1997 Dec;55(12):3270-6.
In most cases of the mitochondrial encephalomyopathies, the mutations of mtDNA usually appear in heteroplasmic states. The degree of mtDNA heteroplasmy has been suggested to play an important role in determining the clinical phenotype and the organ-specific defects. We had devised a novel method for quantitative analysis of heteroplasmy using PCR-SSCP, this method is useful to accurately quantitate heteroplasmy of very small amount of samples. Using this method, we analyzed the heteroplasmy of skeletal muscle or leucocyte from 12 cases of MERRF and 5 cases of MELAS. And we analyzed autopsied cases (2 MERRF and 2 MELAS patients), and the cellular or organellar distributions of heteroplasmy of CNS in MERRF patients, and discussed the correlation of heteroplasmy of mtDNA and clinicopathological findings.
在大多数线粒体脑肌病病例中，线粒体DNA（mtDNA）突变通常以异质性状态出现。mtDNA异质性的程度被认为在决定临床表型和器官特异性缺陷方面起着重要作用。我们设计了一种利用PCR-SSCP进行异质性定量分析的新方法，该方法有助于准确地对极少量样本的异质性进行定量。使用这种方法，我们分析了12例肌阵挛性癫痫伴破碎红纤维（MERRF）患者和5例线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）患者的骨骼肌或白细胞的异质性。并且我们分析了尸检病例（2例MERRF和2例MELAS患者），以及MERRF患者中枢神经系统（CNS）异质性的细胞或细胞器分布，并讨论了mtDNA异质性与临床病理结果的相关性。
