The mitochondrial tRNA^Ala 5587T>C and tRNA^Leu(CUN) 12280A>G mutations may be associated with hypertension in a Chinese family.

ABSTRACT: Hypertension is a very common cardiovascular disorder, however, the molecular mechanism underlying this disease remains poorly understood. Recently, an increasing number of studies have demonstrated that mitochondrial (mt)DNA mutations serve important roles in the pathogenesis of hypertension. The current study reported the clinical and molecular characterization of a Chinese family with maternally inherited hypertension (the penetrance of hypertension was 71.4%). In addition, the entire mitochondrial transfer (mt-t)RNA genomes was amplified using a polymerase chain reaction (PCR) and identified through direct Sanger sequencing. Additionally, the mtDNA copy number in matrilineal relatives in this family was evaluated using quantitative PCR. The sequence analysis of the 22 mt-tRNA genes led

SUBMITTER: Lin L 

PROVIDER: S-EPMC6364232 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature