Mitochondrial tRNAThr 15909A>G mutation associated with hypertension in a Chinese Han pedigree

Biochem Biophys Res Commun. 2018 Jan 1;495(1):574-581. doi: 10.1016/j.bbrc.2017.11.061. Epub 2017 Nov 10.

Abstract

Mitochondrial DNA mutations are one of the molecular genetic bases of hypertension. Here, we performed clinical, genetic and mutational evaluation, molecular characterization as well as biochemical analysis of a Chinese Han family with maternally inherited hypertension. The m.15909A > G variant in tRNAThr was identified. This mutation abolished a highly conserved base pairing (11U-24A) in the D-stem of tRNAThr and affected the structure and function of mitochondrial tRNAThr. As a result, the overall levels of mitochondrial translation products was decreased. The reduced mitochondrial protein synthesis resulted in the decrease in the activity of complex, and in turn, the production of ATP decreased and the generation of ROS increased. The m.15909A > G mutation maybe an inherited factor leading to the development of hypertension in this Chinese Han pedigree.

Keywords: Chinese Han; Hypertension; Mitochondrial tRNA; Mutation.

MeSH terms

  • Adult
  • Aged, 80 and over
  • China
  • Female
  • Genetic Association Studies
  • Genetic Markers / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Hypertension / diagnosis
  • Hypertension / genetics*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Pedigree
  • Polymorphism, Single Nucleotide / genetics*
  • RNA / genetics*
  • RNA, Mitochondrial
  • RNA, Transfer / genetics*

Substances

  • Genetic Markers
  • RNA, Mitochondrial
  • RNA
  • RNA, Transfer