Tritschler H J, Andreetta F, Moraes C T, Bonilla E, Arnaudo E, Danon M J, Glass S, Zelaya B M, Vamos E, Telerman-Toppet N
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032.
Neurology. 1992 Jan;42(1):209-17. doi: 10.1212/wnl.42.1.209.
We have studied five children with mitochondrial myopathy manifesting within or soon after the first year of life. Muscle biopsies showed ragged-red fibers and decreased respiratory chain activity. All five patients had a severe decrease (2 to 34% of normal) in the amount of muscle mitochondrial DNA (mtDNA). The depletion of mtDNA correlated with absence of mtDNA-encoded translation products and with loss of cytochrome c oxidase enzyme activity in individual muscle fibers. This mitochondrial myopathy of childhood illustrates one phenotypic expression of a novel pathogenetic mechanism in mitochondrial diseases, the specific depletion of mtDNA in affected tissues.
我们研究了5名在出生后第一年内或之后不久出现线粒体肌病的儿童。肌肉活检显示有破碎红纤维，呼吸链活性降低。所有5名患者的肌肉线粒体DNA（mtDNA）量均严重减少（为正常量的2%至34%）。mtDNA的耗竭与mtDNA编码的翻译产物缺失以及个别肌纤维中细胞色素c氧化酶活性丧失相关。这种儿童线粒体肌病说明了线粒体疾病中一种新的致病机制的一种表型表现，即受影响组织中mtDNA的特异性耗竭。
