Hasegawa H, Matsuoka T, Goto Y, Nonaka I
Division of Ultrastructural Research, National Institute of Neuroscience, Tokyo, Japan.
Acta Neuropathol. 1993;85(3):280-4. doi: 10.1007/BF00227723.
More than half of the intramuscular blood vessels in muscle biopsies from five patients with myoclonus epilepsy with ragged-fibers (MERRF) who had a point mutation in mitochondrial DNA at the tRNALys region were darkly stained with succinate dehydrogenase (SDH) stain, showing the morphologic characteristics of strongly SDH-reactive blood vessels (SSV), but they had no cytochrome c oxidase (CCO) activity. By electron cytochemistry, the mitochondria in the smooth muscle cells of SSV had no CCO activity. On the other hand, SSV in muscle biopsies from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) had normal CCO activity as shown by light and electron microscopy. The defect in CCO activity in the arteriolar smooth muscle cells and in muscle fibers suggests that CCO deficiency is related to the pathophysiology of MERRF.
在5例患有肌阵挛性癫痫伴破碎红纤维（MERRF）且线粒体DNA在tRNALys区域存在点突变的患者的肌肉活检样本中，超过半数的肌内血管经琥珀酸脱氢酶（SDH）染色后呈深色，显示出强SDH反应性血管（SSV）的形态学特征，但它们没有细胞色素c氧化酶（CCO）活性。通过电子细胞化学方法发现，SSV平滑肌细胞中的线粒体没有CCO活性。另一方面，线粒体肌病、脑病、乳酸性酸中毒和卒中样发作（MELAS）患者的肌肉活检样本中的SSV，通过光镜和电镜观察显示具有正常的CCO活性。小动脉平滑肌细胞和肌纤维中CCO活性的缺陷表明，CCO缺乏与MERRF的病理生理学相关。
