Collins S, Rudduck C, Marzuki S, Dennett X, Byrne E
Department of Neurology, St. Vincent's Hospital, Melbourne, Australia.
Biochim Biophys Acta. 1991 Nov 21;1097(4):309-17. doi: 10.1016/0925-4439(91)90086-o.
In situ hybridization studies were performed on a series of chronic progressive external ophthalmoplegia patients harbouring large mitochondrial DNA deletions, using intra- and extra-deletional probes. Clear differences in the distribution of wild type and deleted mitochondrial genomes were seen in both ragged-red and non-ragged red, cytochrome c oxidase-negative fibres, with an accumulation of deleted genomes in the subsarcolemmal zone. Wild type genome content was normal or decreased in the cytochrome c oxidase-negative regions of one case, but in two patients, wild type mtDNA content in cytochrome c oxidase-negative regions was either normal (most fibres) or increased (occasional fibres). The latter observation suggests there may be a stage in the natural history of ragged-red fibre evolution where wild type genomes are transiently increased. The significance of this finding is discussed.
使用线粒体内和线粒体外缺失探针，对一系列患有大片段线粒体DNA缺失的慢性进行性外眼肌麻痹患者进行了原位杂交研究。在破碎红和非破碎红、细胞色素c氧化酶阴性纤维中，野生型和缺失型线粒体基因组的分布均存在明显差异，缺失型基因组在肌膜下区域积聚。在1例患者的细胞色素c氧化酶阴性区域，野生型基因组含量正常或降低，但在2例患者中，细胞色素c氧化酶阴性区域的野生型线粒体DNA含量在大多数纤维中正常，在少数纤维中增加。后一观察结果表明，在破碎红纤维演变的自然史中，可能存在野生型基因组短暂增加的阶段。本文讨论了这一发现的意义。
