Maternally Inherited Essential Hypertension May Be Associated with the Mutations in Mitochondrial tRNA^Glu Gene.

ABSTRACT:

Background

Mitochondrial DNA (mtDNA) mutations are associated with essential hypertension (EH), but the molecular mechanism remains largely unknown.

Objective

The aim of this study is to explore the association between mtDNA mutations and EH.

Methods

Two maternally inherited families with EH are underwent clinical, genetic and biochemical assessments. mtDNA mutations are screened by PCR-Sanger sequencing and phylogenetic, and bioinformatics analyses are performed to evaluate the pathogenicity of mtDNA mutations. We also generate cytoplasmic hybrid (cybrid) cell lines to analysis mitochondrial functions.

Results

Matrilineal relatives exhibit variable degree of clinical phenotypes. Molecular analysis reveals the presence of m.A14693G and m.A14696G mutations in tw

SUBMITTER: Wang C 

PROVIDER: S-EPMC10787565 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature