Mazunin I O, Volod'ko N V, Starikovskaia E B, Sukernik R I
Mol Biol (Mosk). 2010 Sep-Oct;44(5):755-72.
Today there are described more than 400 point mutations and more than hundred of structural rearrangements of mitochondrial DNA associated with characteristic neuromuscular and other mitochondrial syndromes, from lethal in the neonatal period of life to the disease with late onset. The defects of oxidative phosphorylation are the main reasons of mitochondrial disease development. Phenotypic diversity and phenomenon of heteroplasmy are the hallmark of mitochondrial human diseases. It is necessary to assess the amount of mutant mtDNA accurately, since the level of heteroplasmy largely determines the phenotypic manifestation. In spite of better understanding of the processes of phenotypic expression, currently there are no adequate treatments for mitochondrial diseases.
如今，已发现400多种线粒体DNA点突变以及100多种与典型神经肌肉和其他线粒体综合征相关的结构重排，这些综合征涵盖从新生儿期致死到迟发性疾病。氧化磷酸化缺陷是线粒体疾病发生的主要原因。表型多样性和异质性现象是人类线粒体疾病的标志。准确评估突变型线粒体DNA的数量很有必要，因为异质性水平在很大程度上决定了表型表现。尽管对表型表达过程有了更好的理解，但目前线粒体疾病仍没有有效的治疗方法。
