Ricci E, Moraes C T, Servidei S, Tonali P, Bonilla E, DiMauro S
UILDM of Rome Research Center for Neuromuscular Diseases, Catholic University, Italy.
Brain Pathol. 1992 Apr;2(2):141-7. doi: 10.1111/j.1750-3639.1992.tb00682.x.
Quantitative defects of mtDNA have been recently described in patients with fatal mitochondrial disease of early infancy or mitochondrial myopathy of childhood. There was variable tissue expression and depletion of up to 98% of mtDNA in affected tissues. Pedigree analysis was compatible with mendelian inheritance, suggesting faulty communication between nuclear and mitochondrial genomes, but the primary molecular lesion is unknown. In muscle, morphological studies allowed to correlate mtDNA depletion, absence of mtDNA-encoded peptides, mitochondrial proliferation, and loss of cytochrome c oxidase (COX) activity in individual fibers.
近期研究发现，患有早期婴儿致命性线粒体疾病或儿童线粒体肌病的患者存在线粒体DNA（mtDNA）的定量缺陷。在受影响的组织中，mtDNA存在可变的组织表达，且耗竭程度高达98%。系谱分析符合孟德尔遗传规律，提示核基因组与线粒体基因组之间的通讯存在故障，但主要分子病变尚不清楚。在肌肉中，形态学研究能够将mtDNA耗竭、mtDNA编码肽的缺失、线粒体增殖以及单个肌纤维中细胞色素c氧化酶（COX）活性的丧失联系起来。
