ArticleHuman molecular genetics2015
Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 35 citations in OpenAlex.
- Haplotype variability in mitochondrial rRNA predisposes to metabolic syndrome.Communications biology · 2024Article
- Mitochondrial RNA modification-based signature to predict prognosis of lower grade glioma: a multi-omics exploration and verification study.Scientific reports · 2024Article
- Our current understanding of the toxicity of altered mito-ribosomal fidelity during mitochondrial protein synthesis: What can it tell us about human disease?Frontiers in physiology · 2023Review
- Precision mitochondrial medicine.Cambridge prisms. Precision medicine · 2023Review
- Post-transcriptional diversity in riboproteins and RNAs in aging and cancer.Seminars in cancer biology · 2021Review
- Human Mitoribosome Biogenesis and Its Emerging Links to Disease.International journal of molecular sciences · 2021Review
- [Progress in genetic susceptibility to aminoglycoside-induced deafness].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021Review
- Combined exposure to polychlorinated biphenyls and high-fat diet modifies the global epitranscriptomic landscape in mouse liver.Environmental epigenetics · 2021Article
- Heterologous Inferential Analysis (HIA) and Other Emerging Concepts: In Understanding Mitochondrial Variation In Pathogenesis: There is no More Low-Hanging Fruit.Methods in molecular biology (Clifton, N.J.) · 2021Article
- Mitochondrial dysfunction and pancreatic islet β-cell failure (Review).Experimental and therapeutic medicine · 2020Review
- Mitochondrial metabolism and DNA methylation: a review of the interaction between two genomes.Clinical epigenetics · 2020Review
- Methylation of Ribosomal RNA: A Mitochondrial Perspective.Frontiers in genetics · 2020Review
- Mitoepigenetics and Its Emerging Roles in Cancer.Frontiers in cell and developmental biology · 2020Review
- Structural insights into dimethylation of 12S rRNA by TFB1M: indispensable role in translation of mitochondrial genes and mitochondrial function.Nucleic acids research · 2019Article
- Gene mutation analysis and genetic counseling for patients with non-syndromic hearing loss in Linyi region.Experimental and therapeutic medicine · 2019Article
- Mutant MRPS5 affects mitoribosomal accuracy and confers stress-related behavioral alterations.EMBO reports · 2018Article
- Aminoglycoside ribosome interactions reveal novel conformational states at ambient temperature.Nucleic acids research · 2018Article
- Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.Journal of cellular and molecular medicine · 2017Article
- The human RNA-binding protein RBFA promotes the maturation of the mitochondrial ribosome.The Biochemical journal · 2017Article
- Towards the Prevention of Aminoglycoside-Related Hearing Loss.Frontiers in cellular neuroscience · 2017Review
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
Abstract
The mitochondrial DNA mutation m.1555A>G predisposes to hearing loss following aminoglycoside antibiotic exposure in an idiosyncratic dose-independent manner. However, it may also cause maternally inherited hearing loss in the absence of aminoglycoside exposure or any other clinical features (non-syndromic hearing loss). Although m.1555A>G was identified as a cause of deafness more than twenty years ago, the pathogenic mechanism of this mutation of ribosomal RNA remains controversial. Different mechanistic concepts have been proposed. Most recently, evidence from cell lines and animal models suggested that patients with m.1555A>G may have more 12S rRNA N6, N6-dimethyladenosine (m(6) 2A) methylation than controls, so-called 'hypermethylation'. This has been implicated as a pathogenic mechanism of mitochondrial dysfunction but has yet to be validated in patients. 12S m(6) 2A rRNA methylation, by the mitochondrial transcription factor 1 (TFB1M) enzyme, occurs at two successive nucleotides (m.1584A and m.1583A) in close proximity to m.1555A>G. We examined m(6) 2A methylation in 14 patients with m.1555A>G, and controls, and found all detectable 12S rRNA transcripts to be methylated in both groups. Moreover, different RNA samples derived from the same patient (lymphocyte, fibroblast and lymphoblast) revealed that only transformed cells contained some unmethylated 12S rRNA transcripts, with all detectable 12S rRNA transcripts derived from primary samples m(6) 2A-methylated. Our data indicate that TFB1M 12S m(6) 2A rRNA hypermethylation is unlikely to be a pathogenic mechanism and may be an artefact of previous experimental models studied. We propose that RNA methylation studies in experimental models should be validated in primary clinical samples to ensure that they are applicable to the human situation.
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