ArticleJournal of the American Heart Association2014
Mitochondrial tRNA variants in Chinese subjects with coronary heart disease.
Article in Journal of the American Heart Association, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 41 citations in OpenAlex.
- Mitochondrial tRNA-Derived Diseases.International journal of molecular sciences · 2025Review
- Polycystic Ovary Syndrome May Be Associated With a Novel Mitochondrial tRNAHuman mutation · 2025Article
- Review
- Analysis of Mitochondrial Transfer RNA Mutations in Breast Cancer.Balkan journal of medical genetics : BJMG · 2023Article
- Mutational analysis of mitochondrial tRNA genes in 138 patients with Leber's hereditary optic neuropathy.Irish journal of medical science · 2022Article
- Clinical and molecular features of two diabetes families carrying mitochondrial ND1 T3394C mutation.Irish journal of medical science · 2022Article
- The Mitochondrial tRNAFrontiers in genetics · 2022Article
- Mitochondrial mutations in protein coding genes of respiratory chain including complexes IV, V, and mt-tRNA genes are associated risk factors for congenital heart disease.EXCLI journal · 2022Article
- Identification of sequence polymorphisms in the mitochondrial deoxyribonucleic acid displacement-loop region as risk factors for systemic lupus erythematosus.Archives of rheumatology · 2021Article
- mtDNA in the Pathogenesis of Cardiovascular Diseases.Disease markers · 2021Article
- Detecting Rare Variants and Heteroplasmy of Mitochondrial DNA from High-Throughput Sequencing in Patients with Coronary Artery Disease.Medical science monitor : international medical journal of experimental and clinical research · 2020Article
- Screening for deafness-associated mitochondrial 12S rRNA mutations by using a multiplex allele-specific PCR method.Bioscience reports · 2020Article
- Mitochondrial tRNAIrish journal of medical science · 2020Article
- Obesity associated with a novel mitochondrial tRNACys 5802A>G mutation in a Chinese family.Bioscience reports · 2020Article
- Mitochondrial DNA Haplogroup M7 Confers Disability in a Chinese Aging Population.Frontiers in genetics · 2020Article
- Maternally inherited coronary heart disease is associated with a novel mitochondrial tRNA mutation.BMC cardiovascular disorders · 2019Article
- Mitochondrial DNA analyses found five novel mutations in idiopathic epilepsy patients.Mitochondrial DNA. Part B, Resources · 2019Article
- A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis.Nucleic acids research · 2019Article
- Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.CNS neuroscience & therapeutics · 2019Article
- Mitochondrial DNA mutations and cardiovascular disease.Current opinion in cardiology · 2017Article
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10 authors at 5 institutions in 2 countries.
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Abstract
backgroundCoronary heart disease is the leading cause of death worldwide. Mitochondrial genetic determinants for the development of this disorder remain less explored. METHODS AND
resultsWe performed a clinical and genetic evaluation and mutational screening of 22 mitochondrial tRNA genes in a cohort of 80 genetically unrelated Han Chinese subjects and 125 members of 4 families with coronary heart disease and 512 Chinese control subjects. This analysis identified 16 nucleotide changes among 9 tRNA genes. Of these, the T5592C mutation creates a highly conservative base pairing (5G-68C) on the acceptor stem of tRNA(Gln), whereas the G15927A mutation destabilizes a highly conserved base pairing (28C-42G) in the anticodon stem of tRNA(Thr). However, the other tRNA variants were polymorphisms. The pedigrees of BJH24 carrying the T5592C mutation, BJH15, and BJH45 harboring the G15927A mutation exhibited maternal transmission of coronary heart disease. Sequence analysis of their mitochondrial genomes revealed the presence of T5592C or G15927A mutation but the absence of other functionally significant mutations in all matrilineal relatives of these families.
conclusionsOur previous observations showed that altered structures of tRNAs by these mtDNA mutations caused mitochondrial dysfunction. These may be the first evidence that mtDNA mutations increase the risk of coronary heart disease. Our findings may provide new insights into the pathophysiology of this disorder.
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