线粒体 DNA突变与心肌病关系的研究进展

人类某些疾病与线粒体DNA(mtDNA)基因组缺陷有关.本文就mtDNA突变与缺血性心肌病和肥厚型心肌病关系的研究加以回顾.目前的研究大多认为心肌缺血缺氧致氧化磷酸化紊乱,产生氧自由基损伤mtDNA,以及缺氧致氧化磷酸化过度诱导而损伤mtDNA,慢性损伤积累终致mtDNA片断缺失或点突变,主要表现出mtDNA5.0kb、7.4kb缺失及细胞色素b(cytb)基因上C15452A点突变;tRNA基因保守序列突变,致肌肉收缩蛋白合成缺陷,缺陷的收缩蛋白持续而无效的收缩可能会增加心肌对ATP的代谢需求,因此导致心肌肥厚.

The research progress of the association of mitochondrial DNA mutation with cardiomyopathy

There are some human diseases associated with mitochondrial DNA genome defect. Now many studies think that: oxygen radical resulting from oxidative phosphorylation(OXPHOS) disorder caused by myocardium ischemia and the increased OXPHOS induction damage mitochondrial DNA.Chronic damage accumulations lead to mitochondrial DNA deletion or point mutation in the end which show mitochondrial DNA 5.0kb or 7.4kb deletion and point mutation at position C15452A in the cytochrome b gene; the conservative sequence mutation of tRNA gene such as A4300G, C4320T point mutation in the tRNA Ilegene,A3243G point mutation in the tRNA legene etc result in defective contractile proteins whose persistent and inefficient contraction may increase the myocardium's metabolic demands for ATP and leads to cardiac hypertrophy. In this article, we review the study on the association of mitochondrial DNA mutation with ischemic cardiomyopathy and hypertrophic cardiomyopathy.