Objectives Mitochondrial DNA mutations have been reported to be involved in pathogenesis of hypertension. To investigate the relationship of mitochondrial DNA and hypertension, we did sequence analysis of patients with hypertension.
Methods In this study, we did sequence analysis on the entire mitochondrial DNA. And we report the clinical, genetic, and molecular characterization of one Chinese Han family with suggestively maternally transmitted hypertension.
Results Matrilineal relatives in this family exhibited the variable degree of hypertension at the onset age of 48 to 55 years old. Sequence analysis of the entire mitochondrial DNA in this pedigree identified novel homoplasmic 4329C > G locating at 3’ end of tRNAIle and tRNAGln gene. The cytosine (C) at this position is extraordinarily conserved from bacteria to human mitochondria. This position was shown to contribute to the high fidelity of acceptor arm, the structural formation, and stabilisation of functional tRNAs. The 4329C > G in the junction between tRNAIle and tRNAGln located in the acceptor arm, which affected the effective combination of tRNA and amino acid. The occurrence of the C4329G in tRNAIle and tRNAGln mutation in this Chinese Han family affected by hypertension but absence of 366 Chinese controls as well as the mitochondrial dysfunctions detected in cells carrying this mutation indicate that this mutation was involved in the pathogenesis of hypertension.
Conclusions However, hypertension is a very complex cardiovascular disease associated with multiple factors including the genetics and environments. So this point mutation contributes to the pathogenesis of hypertension also involved with other modifier factors.