Mancuso Michelangelo, Filosto Massimiliano, Choub Anna, Tentorio Marta, Broglio Laura, Padovani Alessandro, Siciliano Gabriele
Department of Neuroscience, University of Pisa, Via Roma 67, Pisa, 56126, Italy.
Biosci Rep. 2007 Jun;27(1-3):31-7. doi: 10.1007/s10540-007-9035-2.
Mitochondrial diseases are a group of disorders due to a mitochondrial respiratory chain deficiency. They may depend on mitochondrial genome (mtDNA-related disorders) as well as on a nuclear genome defect (nDNA-related disorders). mtDNA-related disorders encompass an increasing number of clinical pictures associated with more than 250 different provisional or confirmed pathogenic changes in mtDNA. Although some clinical syndromes are nosologically defined, most of the cases present with polymorphous phenotypes ranging from pure myopathy to multi-system involvement. Complexity of mitochondrial genetics is in part responsible for the extreme clinical intra- and inter-familial heterogeneity of this group of diseases. In this review, we briefly report an updated classification and overview the main clinical pictures of this class of diseases.
线粒体疾病是一组由于线粒体呼吸链缺陷引起的病症。它们可能取决于线粒体基因组（与线粒体DNA相关的疾病）以及核基因组缺陷（与核DNA相关的疾病）。与线粒体DNA相关的疾病包括越来越多的临床症状，这些症状与线粒体DNA中250多种不同的临时或确诊的致病变化相关。尽管一些临床综合征在疾病分类学上已有定义，但大多数病例表现出从单纯肌病到多系统受累的多形性表型。线粒体遗传学的复杂性部分导致了这类疾病在家族内和家族间出现极端的临床异质性。在本综述中，我们简要报告了最新分类，并概述了这类疾病的主要临床症状。
