Clinical and molecular features of a Han Chinese family with maternally transmitted hypertension.

Mutations in mitochondrial DNA (mtDNA) were found to be associated with hypertension. We reported here clinical, genetic and molecular characterization of a Han Chinese family with maternally inherited hypertension. Most strikingly, this family exhibited a high penetrance of hypertension. Sequence analysis of the entire mitochondrial genome showed the presence of the well-known T4363C mutation in tRNA, as well as the T3394C mutation, and a set of polymorphisms belonging to human mitochondrial haplogroup M7b. Of these, the T4363C mutation was localized at the highly conserved nucleotide in the anticodon stem of tRNA (position 38), may result the failure in tRNA metabolism. Moreover, the homoplasmic T3394C mutation, which had been reported to be associated with Leber's hereditary optic neuropathy (LHON), was regarded as a pathogenic mutation associated with mitochondrial diseases. Thus, the combination of T3394C and tRNA T4363C mutations may contribute to the high penetrance and expressivity of hypertension in this Chinese family.