MRC, Mitochondrial Biology Unit, Wellcome Trust, MRC Building, Hills Road, Cambridge CB2 0XY, UK.
Semin Fetal Neonatal Med. 2011 Aug;16(4):190-6. doi: 10.1016/j.siny.2011.04.011. Epub 2011 Jun 8.
Mitochondrial disorders are a group of diseases traditionally ascribed to defects of the respiratory chain, which is the only metabolic pathway in the cell that is under the control of the two separate genetic systems, the mitochondrial genome (mtDNA) and the nuclear genome (nDNA). Therefore the genetic classification of the primary mitochondrial diseases distinguishes disorders due to mutations in mtDNA, which are sporadic or maternal inherited, from disorders due to mutations in nDNA, which are governed by the stricter rules of mendelian genetics. Pathological alterations of mtDNA fall into two main categories: primary mutations of mitochondrial DNA (point mutations and rearrangements) and mtDNA perturbation, due to mutations in nuclear genes whose products are involved in mtDNA maintenance or replication. This article will focus on the primary mitochondrial DNA mutations and mtDNA depletion syndromes related to neonatal-infant human pathology.
线粒体疾病是一组传统上归因于呼吸链缺陷的疾病，呼吸链是细胞中唯一受两个独立遗传系统控制的代谢途径，这两个遗传系统分别是线粒体基因组（mtDNA）和核基因组（nDNA）。因此，原发性线粒体疾病的遗传分类将由于 mtDNA 突变引起的疾病（散发性或母系遗传）与由于 nDNA 突变引起的疾病区分开来，后者受更为严格的孟德尔遗传规律的控制。mtDNA 的病理改变分为两大类：线粒体 DNA 的原发性突变（点突变和重排）和 mtDNA 耗竭，这是由于涉及 mtDNA 维持或复制的核基因的突变引起的。本文将重点介绍与新生儿-婴儿人类病理学相关的原发性 mtDNA 突变和 mtDNA 耗竭综合征。
