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Mutations in mitochondrial DNA are associated with the pathogenesis of essential hypertension. We report here the clinical, genetic, and molecular characterization of a three-generation Han Chinese family with essential hypertension. Most strikingly, this family exhibited a high penetrance of essential hypertension. Sequence analysis of the mitochondrial genome showed the presence of a homoplasmic T5655C mutation in tRNA Ala , together with the A4401G mutation in the adjacent region between tRNA Met and tRNA Gln . Notably, the T5655C mutation was localized at the acceptor arm of tRNA Ala , disrupted the high conserved base-pairing (1A-72T), and may impair the tRNA function. Moreover, the A4401G mutation was reported to decrease the steady-state level of tRNA Met and tRNA Gln , and consequently caused the mitochondrial dysfunction responsible for hypertension. Taken together, the combination of T5655C and A4401G mutations in mitochondrial tRNA genes may account for the high penetrance and expressivity of hypertension in this Chinese family. Thus, our findings may provide new insight into the pathogenesis of this disorder.

international heart journal

The Mitochondrial tRNA&lt;sup&gt;Ala&lt;/sup&gt; T5655C Mutation May Modulate the Phenotypic Expression of tRNA&lt;sup&gt;Met&lt;/sup&gt; and tRNA&lt;sup&gt;Gln&lt;/sup&gt; A4401G Mutation in a Han Chinese Family With Essential Hypertension