title: Mitochondrial DNA mutations and essential hypertension (Review).
abstract: Essential hypertension (EH) is a frequent, chronic, age-related disorder, which remains a major modifiable risk factor for cardiovascular disease despite important advances in our understanding of its pathophysiology. Previous studies have noted a consistent maternal effect on blood pressure (BP). Consequently, mutations in mitochondrial DNA (mtDNA) have become an additional target of investigations on the missing BP heritability. Among these mutations, mt-transfer RNA (tRNA) is a hot mutational spot for pathogenic mutations associated with EH. Mutant mtDNA aggravates mitochondrial dysfunction, pivotally contributing to the clinical phenotype. Moreover, the damaged mitochondria, due to their inability to provide the high-energy requirements for cells, generate reactive oxygen species (ROS) and induce mitochondrial-mediated cell death pathways. Therefore, mitochondrial dysfunction plays a critical role in the pathogenesis of EH. This review summarizes the basic knowledge of mitochondrial genetics and EH-associated mtDNA mutations and further discusses the molecular mechanisms behind these mtDNA mutations in clinical manifestations of EH.
authors.affiliation: Central Laboratory, Hangzhou First People's Hospital, Hangzhou, Zhejiang, PR China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Ding
authors.forename: Bohou
authors.initials: B
authors.lastname: Xia
authors.forename: Jinfang
authors.initials: J
authors.lastname: Yu
authors.forename: Jianhang
authors.initials: J
authors.lastname: Leng
authors.forename: Jinyu
authors.initials: J
authors.lastname: Huang
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D000075222:Essential Hypertension; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D009690:Nucleic Acid Conformation; D018384:Oxidative Stress / Q000502:physiology; D017382:Reactive Oxygen Species / Q000378:metabolism
chemical_list: D004272:DNA, Mitochondrial; D017382:Reactive Oxygen Species