Mitochondrial C4375T mutation might be a molecular risk factor in a maternal Chinese hypertensive family under haplotype C

Clin Exp Hypertens. 2018;40(6):518-523. doi: 10.1080/10641963.2017.1403622. Epub 2017 Dec 4.

Abstract

Here, we reported a Han Chinese essential hypertensive pedigree based on clinical hereditary and molecular data. To know the molecular basis on this family, mitochondrial genome of one proband from the family was identified through direct sequencing analysis. The age of onset year and affected degree of patients are different in this family. And matrilineal family members carrying C4375T mutation and belong to Eastern Asian halopgroup C. Phylogenetic analysis shows 4375C is highly conservative in 17 species. It is suggested that these mutations might participate in the development of hypertension in this family. And halopgroup C might play a modifying role on the phenotype in this Chinese hypertensive family.

Keywords: Hypertension; gene mutation; halopgroup; matrilineal; mitochondrial DNA.

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Asians / genetics*
  • DNA, Mitochondrial / genetics*
  • Family
  • Female
  • Genetic Predisposition to Disease
  • Haplotypes
  • Humans
  • Hypertension / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Phenotype
  • Phylogeny
  • Risk Factors

Substances

  • DNA, Mitochondrial