心肌病中线粒体tRNA突变的研究进展

Progress of Mitochondrial tRNA Mutation in Cardiomyopathy

遗传因素作为心血管疾病的一个重要病因,正逐渐受到重视。心脏对氧化代谢的强大依赖使得线粒体基因的改变在心肌病的发生发展中扮演着重要角色。mt-tRNA作为线粒体靶基因突变中最常见的类型,在人类的传播显得尤为关键。因此,本文综述近年来在心肌病中mt-tRNA基因改变的大量研究及其进展。

The influence of genetic factors on cardiovascular event＆ is gradually being taken seriously. The heart is dependent upon oxidative phosphorylation to generate ATP in order for the heart muscle to function normally. The pathway that generates ATP takes place in the mitochondria. It is common for mutations to occur in the mt-tRNA that is coded for by mitochondrial DNA. Mutations in mt-tRNA cause mitochondrial dysfunction. Dysfunctional mitochondria play a critical role in the development of eardiomyopathy. This article reviews current research on mutations in mt-tRNA and the development of cardiomyopathy.