Reichmann H
Department of Neurology, University of Würzburg, Federal Republic of Germany.
Histochemistry. 1992 Sep;98(2):131-4. doi: 10.1007/BF00717004.
Mitochondrial myopathies are morphologically characterized by ragged-red fibres (RRF). Serial cross-section revealed that the ragged-red appearance was only focal. This is in agreement with a partial cytochrome c oxidase (COX) deficiency in chronic progressive external ophthalmoplegia (CPEO). Since most of these patients show deletions of the mitochondrial genome single fibre analyses were performed determining COX and succinate dehydrogenase (SDH) in serial muscle sections from two patients with CPEO. High SDH activity was demonstrated in RRF; in contrast COX activity was lower in RRF in a patient, possibly representing a focal assembly of mitochondria with deletions in their genomes. The variation of enzyme activities along the muscle fibre was especially high in RRF. This study presents the first quantitative evidence that enzyme activities vary considerably along fibres in muscle from patients with a mitochondrial myopathy.
线粒体肌病在形态学上的特征是出现破碎红纤维（RRF）。连续横断面显示，破碎红外观仅为局灶性。这与慢性进行性眼外肌麻痹（CPEO）中部分细胞色素c氧化酶（COX）缺乏相一致。由于这些患者大多数显示线粒体基因组缺失，因此对两名CPEO患者的连续肌肉切片进行了单纤维分析，以测定COX和琥珀酸脱氢酶（SDH）。在RRF中显示出高SDH活性；相反，一名患者的RRF中COX活性较低，这可能代表线粒体基因组发生缺失的局灶性聚集。在RRF中，酶活性沿肌纤维的变化尤其大。本研究提供了首个定量证据，表明线粒体肌病患者肌肉中的酶活性沿纤维有很大差异。
