Abstract

PurposeHypertension is a very important risk factor for cardiac vascular disease. The previous studies showed that mitochondrial DNA mutations are associated with cardiovascular disease, including hypertension. MethodsIn this study we did systematical analysis on the total 22 mitochondrial tRNAs and the clinical, genetic and molecular changes of 140 Chinese hypertension and 124 controls. ResultsThis analysis identified 22 nucleotide changes among 15 different tRNA genes. There are 15 mutations with CI (Conservation index) larger than 75%. Of these, there are 26 patients with CI larger than 75% in the HTN group, higher than the 6 subjects in the control group (P=0.00). The tRNAPhe G586A, tRNALys G8313A and tRNAHis G12147A mutations create highly conservative base-pairings on the D-stem, tRNALys G8342A on the T-stem, tRNAPhe T616C, tRNAAla T5628C, tRNATyr G5856A and tRNAThr A15924G on the AC stem, tRNALeu(CUN) G12300A on the AC loop, tRNAMet C4467T, tRNATrp T5578C, tRNALys A8296G, tRNAArg T10463C and tRNAThr C15891T on ACC stem, and tRNASer(UCN) C7492T on D-A junction, while the other tRNA variants were polymorphisms. The pedigrees of PLAH78 carrying the T5578C, PLAH84 carrying the C4467T, PLAH60 carrying the T5628C and PLAH118 carrying the C7492T mutation exhibited maternal transmission of essential hypertension. Sequence analysis of their mitochondrial genomes revealed the presence of T5578C, C4467T, T5628C or C7492T mutations but the absence of other functionally significant mutations in all matrilineal relatives of these families. ConclusionsThese tRNAs mutations, associated with altered structures of tRNAs and mitochondrial dysfunction, may contribute to the hypertension in Chinese population. A lot of work still should be done for the mechanism and functional effect of the mtDNA mutation on hypertension.

Full Text
Published version (Free)

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call