Mitochondrial Trna(Glu) A14683g May Be A Novel Mutation Associated With Inherited Hypertension

Mutations in mitochondrial genome have been found to play important roles in the pathogenesis of hypertension. We reported here clinical, genetic and molecular characterization of a three-generation Han Chinese family with maternally inherited hypertension. Most strikingly, this family exhibited a high penetrance and expressivity of hypertension, and seven matrilineal relatives in this pedigree manifestated variable degrees of hypertension. Sequence analysis of the complete mitochondrial genome from the affected individuals showed the presence of a novel tRNA(Glu) A14683G mutation and a set of genetic polymorphisms belonging to mitochondrial haplogroup M9a. Interestingly, the homoplasmic A14683G mutation was localized at the highly conserved T Psi C stem of tRNA(Glu) gene (position 64), which was highly conserved from bacteria to human mitochondria. Moreover, the A14683G mutation created a new Watson-Crick base-paring (64A-50G) and may result a failure in mitochondrial tRNA metabolism. Therefore, it can be speculated that the A14683G mutation may cause the mitochondrial dysfunction that was responsible for hypertension. Taken together, our data indicated that the mitochondrial A14683G mutation should be regarded as a risk factor for hypertension. Thus, our findings provided valuable information for the early detection, management and prevention of maternally transmitted hypertension.