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To investigate the relationship of mitochondrial DNA and hypertension, we did sequence analysis of patients with hypertension.
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.
Matrilineal relatives in this family exhibited the variable degree of hypertension at the onset age of 35 to 55 years old. Sequence analysis of the entire mitochondrial DNA in this pedigree identified novel homoplasmic 4467C>A locating in the acceptor arm of tRNAMet. 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 stabilization of functional tRNAs. The 4467C>A located in 3′ end CTA of the acceptor arm, which affected the effective combination of tRNA and amino acid. The occurrence of the C4467A in tRNAMet 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.
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.