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Mitochondrial biogenesis dysfunction and metabolic dysfunction from a novel mitochondrial tRNA^Met 4467 C>A mutation in a Han Chinese family with maternally inherited hypertension.

ABSTRACT: To investigate the relationship between mitochondrial DNA (mtDNA) and hypertension as well as the mechanism involved in mitochondrial metabolic dysfunction. We identified a novel tRNA^Met C4467A mutation in a Han Chinese family with hypertension. The maternal members presented with increased glucose, total cholesterol, low-density lipoprotein, and serum sodium as well as decreased potassium compared with non-maternal members (P < 0.05). Segregation analysis showed this mutation was maternally inherited. We analyzed lymphocyte cell lines derived from three maternal and three non-maternal family members. Reactive oxygen species production in the mutant cell lines was 114.5% higher compared with that in controls (P < 0.05) while ATP was 26.4% lower. The mitochondrial membrane potent

SUBMITTER: Liu Y

PROVIDER: S-EPMC5465199 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

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Dataset Information

Mitochondrial biogenesis dysfunction and metabolic dysfunction from a novel mitochondrial tRNA^Met 4467 C>A mutation in a Han Chinese family with maternally inherited hypertension.

OmicsDI is part of the ELIXIR infrastructure

Tweets

Dataset Information

Mitochondrial biogenesis dysfunction and metabolic dysfunction from a novel mitochondrial tRNAMet 4467 C>A mutation in a Han Chinese family with maternally inherited hypertension.

OmicsDI is part of the ELIXIR infrastructure

Tweets

Mitochondrial biogenesis dysfunction and metabolic dysfunction from a novel mitochondrial tRNA^Met 4467 C>A mutation in a Han Chinese family with maternally inherited hypertension.