Molecular characterization of mitochondrial transferRNAGln and transferRNAMet A4401G mutations in a Chinese family with hypertension

作者: Shuai-Shuai Yu , Ji-Mei Du , Zhi-De Tang , Zhi-Feng He

DOI: 10.3892/MMR.2017.6216

关键词: Sequence analysisBiologyGeneticsRNAMitochondrionEssential hypertensionGeneMutationPoint mutationMolecular biologyCarcinogenesis

摘要: Mutations in mitochondrial (mt)transfer (t)RNA (mt‑tRNA) have been reported to serve important roles hypertension. To determine the underlying molecular mechanisms of mt‑tRNA mutations hypertension, present study screened for a Chinese family with high incidence essential Sequence analysis genes this revealed presence an A4401G mutation glycine‑and methionine‑tRNA genes, and G5821A cysteine‑tRNA (tRNACys) gene. The was located at position conserved various species, disrupted G6‑C67 base‑pairing. It hypothesized that may decrease baseline expression levels tRNACys, consequently result failure tRNA metabolism. cause dysfunction responsible Thus, combination contribute hypertension family. Mt‑tRNA as potential biomarkers

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