ArticleHuman molecular genetics2013
Coronary heart disease is associated with a mutation in mitochondrial tRNA.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
- Epigenomic and transcriptomic approaches in the post-genomic era: path to novel targets for diagnosis and therapy of the ischaemic heart? Position Paper of the European Society of Cardiology Working Group on Cellular Biology of the Heart.Cardiovascular research · 2017Guideline
- Detecting presence of cardiovascular disease through mitochondria respiration as depicted through biophotonic emission.Redox biology · 2016Trial
- Mitochondrial tRNAHuman mutation · 2026Article
- Clinical and genetic analysis of essential hypertension with mitochondrial tRNAZhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2024Article
- Complete mitochondrial genomes of patients from Thailand with cardiovascular diseases.PloS one · 2024Article
- Research Advances on Deafness Genes Associated with Mitochondrial tRNA-37 Modifications.The journal of international advanced otology · 2023Review
- Clinical and genetic analysis of essential hypertension withZhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Article
- Mitochondrial Dysfunction in Cardiac Diseases and Therapeutic Strategies.Biomedicines · 2023Review
- Analysis of Mitochondrial Transfer RNA Mutations in Breast Cancer.Balkan journal of medical genetics : BJMG · 2023Article
- Maternally transmitted nonsyndromic hearing impairment may be associated with mitochondrial tRNAJournal of clinical laboratory analysis · 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
- Cardiac complications in inherited mitochondrial diseases.Heart failure reviews · 2021Review
- [A non-invasive method for detecting mitochondrial tRNANan fang yi ke da xue xue bao = Journal of Southern Medical University · 2021Article
- Mutational Analysis of Mitochondrial tRNA Genes in 200 Patients with Type 2 Diabetes Mellitus.International journal of general medicine · 2021Article
- The Role of Mitochondrial Dysfunction in Vascular Disease, Tumorigenesis, and Diabetes.Frontiers in molecular biosciences · 2021Review
- Article
- tRNA-Derived Small RNAs and Their Potential Roles in Cardiac Hypertrophy.Frontiers in pharmacology · 2020Review
- Pathways to disease from natural variations in human cytoplasmic tRNAs.The Journal of biological chemistry · 2019Review
- A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis.Nucleic acids research · 2019Article
- Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.Human molecular genetics · 2018Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Coronary heart disease (CHD) is the leading cause of death worldwide. Mitochondrial genetic determinant for the development of CHD remains poorly explored. We report there the clinical, genetic, molecular and biochemical characterization of a four-generation Chinese family with maternally inherited CHD. Thirteen of 32 adult members in this family exhibited variable severity and age-at-onset of CHD. Mutational analysis of their mitochondrial genomes identified the tRNA(Thr) 15927G>A mutation belonging to the Eastern Asian haplogroup B5. The anticipated destabilization of a highly conserved base-pairing (28C-42G) by the 15927G>A mutation affects structure and function of tRNA(Thr). Northern analysis revealed ≈80% decrease in the steady-state level of tRNA(Thr) in the mutant cell lines carrying the 15927G>A mutation. The 15927G>A mutation changed the conformation of tRNA(Thr), as suggested by slower electrophoretic mobility of mutated tRNA with respect to the wild-type molecule. In addition, ∼39% reduction in aminoacylated efficiency of tRNA(Thr) was observed in mutant cells derived from this Chinese family. An in vivo mitochondrial protein labeling analysis showed ∼53% reduction in the rate of mitochondrial translation in mutant cells. The impaired mitochondrial protein synthesis leads to defects in overall respiratory capacity or malate/glutamate-promoted respiration or succinate/glycerol-3-phosphate-promoted respiration, or N,N,N',N'-tetramethyl-pphenylenediamine/ascorbate-promoted respiration in mutant cells. An increasing production of reactive oxygen species was observed in the mutant cells carrying the 15927G>A mutation. These results provide the direct evidence that the tRNA(Thr) 15927G>A mutation is associated with CHD. Our findings may provide new insights into pathophysiology and intervention targets of this disorder.
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