ArticleMitochondrion2015
The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease.
Article in Mitochondrion, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 46 citations in OpenAlex.
- Functionally dominant hotspot mutations of mitochondrial ribosomal RNA genes in cancer.Nature genetics · 2025Article
- Somatic mtDNA mutations at intermediate levels of heteroplasmy are a source of functional heterogeneity among primary leukemic cells.Science advances · 2025Article
- Changes inBiomedicines · 2024Article
- Human mtDNA-Encoded Long ncRNAs: Knotty Molecules and Complex Functions.International journal of molecular sciences · 2024Review
- Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.Frontiers in cell and developmental biology · 2024Review
- MmisAT and MmisP: an efficient and accurate suite of variant analysis toolkit for primary mitochondrial diseases.Human genomics · 2023Article
- Structural analysis of mitochondrial rRNA gene variants identified in patients with deafness.Frontiers in physiology · 2023Article
- 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
- Human Mitoribosome Profiling: A Re-engineered Approach Tailored to Study Mitochondrial Translation.Methods in molecular biology (Clifton, N.J.) · 2023Article
- A Primer Genetic Toolkit for Exploring Mitochondrial Biology and Disease Using Zebrafish.Genes · 2022Article
- Mitochondrial ribosomal stress in lung diseases.American journal of physiology. Lung cellular and molecular physiology · 2022Review
- Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.Cancers · 2022Article
- The frequency of the known mitochondrial variants associated with drug-induced toxicity in a Korean population.BMC medical genomics · 2022Article
- Exposure to a Pathological Condition May Be Required for the Cells to Secrete Exosomes Containing mtDNA Aberration.Journal of nucleic acids · 2022Article
- Article
- Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Human Mitoribosome Biogenesis and Its Emerging Links to Disease.International journal of molecular sciences · 2021Review
- The Diseased Mitoribosome.FEBS letters · 2021Review
- Intimate Relations-Mitochondria and Ageing.International journal of molecular sciences · 2020Review
- Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.Clinics in laboratory medicine · 2020Review
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
Abstract
Mitochondrial DNA mutations are well recognized as an important cause of disease, with over two hundred variants in the protein encoding and mt-tRNA genes associated with human disorders. In contrast, the two genes encoding the mitochondrial rRNAs (mt-rRNAs) have been studied in far less detail. This is because establishing the pathogenicity of mt-rRNA mutations is a major diagnostic challenge. Only two disease causing mutations have been identified at these loci, both mapping to the small subunit (SSU). On the large subunit (LSU), however, the evidence for the presence of pathogenic LSU mt-rRNA changes is particularly sparse. We have previously expanded the list of deleterious SSU mt-rRNA mutations by identifying highly disruptive base changes capable of blocking the activity of the mitoribosomal SSU. To do this, we used a new methodology named heterologous inferential analysis (HIA). The recent arrival of near-atomic-resolution structures of the human mitoribosomal LSU, has enhanced the power of our approach by permitting the analysis of the corresponding sites of mutation within their natural structural context. Here, we have used these tools to determine whether LSU mt-rRNA mutations found in the context of human disease and/or ageing could disrupt the function of the mitoribosomal LSU. Our results clearly show that, much like the for SSU mt-rRNA, LSU mt-rRNAs mutations capable of compromising the function of the mitoribosomal LSU are indeed present in clinical samples. Thus, our work constitutes an important contribution to an emerging view of the mitoribosome as an important element in human health.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.