ArticlePharmacogenetics and genomics2008
Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.
Article in Pharmacogenetics and genomics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?African journal of paediatric surgery : AJPSPooled it
- Mutational Analysis of Mitochondrial tRNA Genes in 200 Patients with Type 2 Diabetes Mellitus.International journal of general medicine · 2021Article
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- A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis.Nucleic acids research · 2019Article
- Contribution of the tRNAThe Journal of biological chemistry · 2018Article
- A hypertension-associated mitochondrial DNA mutation introduces an mThe Journal of biological chemistry · 2018Article
- Mutational Analysis of Mitochondrial tRNA Genes in Patients with Asthma.Iranian journal of public health · 2017Article
- Mitochondrial DNA mutations associated with aminoglycoside induced ototoxicity.Journal of otology · 2017Review
- Mutational analysis of mitochondrial tRNA genes in patients with lung cancer.Balkan journal of medical genetics : BJMG · 2016Article
- PharmGKB summary: very important pharmacogene information for MT-RNR1.Pharmacogenetics and genomics · 2016Review
- A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction.The Journal of biological chemistry · 2016Article
- A Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function.Molecular and cellular biology · 2016Article
- Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases.Balkan journal of medical genetics : BJMG · 2016Article
- Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry.BMC medical genetics · 2016Article
- Mitochondrial tRNA variants in Chinese subjects with coronary heart disease.Journal of the American Heart Association · 2014Article
- Coronary heart disease is associated with a mutation in mitochondrial tRNA.Human molecular genetics · 2013Article
- Mitochondrial COX2 G7598A mutation may have a modifying role in the phenotypic manifestation of aminoglycoside antibiotic-induced deafness associated with 12S rRNA A1555G mutation in a Han Chinese pedigree.Genetic testing and molecular biomarkers · 2013Article
- Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease.Genome biology and evolution · 2013Article
- Mitochondrial ribosome and Ménière's disease: a pilot study.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2012Article
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12 authors at 5 institutions in 2 countries.
Funding
Abstract
objectiveTo investigate the role of mitochondrial modifiers in the development of deafness associated with 12S rRNA A1555G mutation.
methodsFour Chinese families with nonsyndromic and aminoglycoside-induced deafness were studied by clinical and genetic evaluation, molecular and biochemical analyses of mitochondrial DNA (mtDNA).
resultsThese families exhibited high penetrance and expressivity of hearing impairment. Penetrances of hearing loss in WZD31, WZD32, WZD33, and WZD34 pedigrees ranged from 50 to 67% and from 39 to 50%, respectively, when aminoglycoside-induced hearing loss was included or excluded. Matrilineal relatives in these families developed hearing loss at the average of 14, 13, 16, and 15 years of age, respectively, when aminoglycoside-induced deafness was excluded. Mutational analysis of entire mtDNA in these families showed the homoplasmic A1555G mutation and distinct sets of variants belonging to haplogroup B5b1. Of these, the tRNA G15927A mutation locates at the fourth base in the anticodon stem (conventional position 42) of tRNA. A guanine (G42) at this position of tRNA is highly conserved from bacteria to human mitochondria. The lower levels and altered electrophoretic mobility of tRNA were observed in cells carrying A1555G and G15927A mutations or only G15927A mutation but not cells carrying only A1555G mutation. The abolished base pairing (28C-42G) of this tRNA by the G15927A mutation caused a failure in tRNA metabolism, worsening the mitochondrial dysfunctions altered by the A1555G mutation.
conclusionThe G15927A mutation has a potential modifier role in increasing the penetrance and expressivity of the deafness-associated 12S rRNA A1555G mutation in those Chinese pedigrees.
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