关键词: 高血压, 母系遗传, mtDNA突变, 线粒体tRNA

Abstract: Mutations in mitochondrial DNA (mtDNA) are one of the molecular bases of hypertension. Among these, the tRNA^Met A4435G, tRNA^Met/tRNA^Gln A4401G, tRNA^Ile A4263G, T4291C and A4295G mutations have been reported to be associated with essential hypertension. These mutations alter the structure of the corresponding mitochondrial tRNAs and cause failures in tRNA metabolism. These shortages of these tRNAs lead to an impairment of mitochondrial protein synthesis and a failure in the oxidative phosphorylation function. These result in a deficit in ATP synthesis and an increase of generation of reactive oxygen species. As a result, these mitochondrial dysfunctions may contribute to the development of hypertension. Furthermore, the tissue specificity of these pathogenic mtDNA mutations might be associated with tRNA metabolism and nuclear modifier genes. These mtDNA mutations should be considered as inherited risk factors for future molecular diagnosis. Thus, these findings provide new insights into the molecular mechanism, management and treatment of maternally inherited hypertension. This review summarized the association between mtDNA mutations and hypertension.

Key words: hypertension, maternal inheritance, mtDNA mutation, mitochondrial tRNA