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

Abstract

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 tRNAGln, as well as the ND1 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 tRNAGln (position 38), may result the failure in tRNA metabolism. Moreover, the homoplasmic ND1 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 ND1 T3394C and tRNAGln T4363C mutations may contribute to the high penetrance and expressivity of hypertension in this Chinese family.

• Authors: Jianzhi Shao, Changgong Chen, Wenhui Lin, Zhibing Dong, Ranran Gao, Caiming Chen, Bin Lin, Junzheng Chen, Jinzhong Xu
• Journal: International journal of clinical and experimental pathology (Int J Clin Exp Pathol) Vol. 10 Issue 7 Pg. 7384-7389 ( 2017) ISSN: 1936-2625 [Electronic] United States
• PMID: 31966580 (Publication Type: Journal Article)
• Copyright: IJCEP Copyright © 2017.