ArticleHuman molecular genetics2014
The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.
Article in Human molecular genetics, 2014. 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.
- 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
- Next-generation sequencing of mitochondrial DNA reveals pathogenic variants and protective haplogroup D4 in esophageal cancer.Frontiers in genetics · 2025Article
- Changes inBiomedicines · 2024Article
- Variant load of mitochondrial DNA in single human mesenchymal stem cells.Scientific reports · 2024Article
- Human mtDNA-Encoded Long ncRNAs: Knotty Molecules and Complex Functions.International journal of molecular sciences · 2024Review
- 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
- Key role of mitochondrial mutation Leu107Ser (COX1) in deltamethrin resistance in salmon lice (Lepeophtheirus salmonis).Scientific reports · 2022Article
- Mitochondrial ribosomal stress in lung diseases.American journal of physiology. Lung cellular and molecular physiology · 2022Review
- The frequency of the known mitochondrial variants associated with drug-induced toxicity in a Korean population.BMC medical genomics · 2022Article
- Eukaryotic ribosome quality control system: a potential therapeutic target for human diseases.International journal of biological sciences · 2022Review
- 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
- Engineering Genetic Systems for Treating Mitochondrial Diseases.Pharmaceutics · 2021Review
- The Diseased Mitoribosome.FEBS letters · 2021Review
- 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
- Intimate Relations-Mitochondria and Ageing.International journal of molecular sciences · 2020Review
- Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.Clinics in laboratory medicine · 2020Review
- Somatic mitochondrial mutation discovery using ultra-deep sequencing of the mitochondrial genome reveals spatial tumor heterogeneity in head and neck squamous cell carcinoma.Cancer letters · 2020Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
Mutations of mitochondrial DNA are linked to many human diseases. Despite the identification of a large number of variants in the mitochondrially encoded rRNA (mt-rRNA) genes, the evidence supporting their pathogenicity is, at best, circumstantial. Establishing the pathogenicity of these variations is of major diagnostic importance. Here, we aim to estimate the disruptive effect of mt-rRNA variations on the function of the mitochondrial ribosome. In the absence of direct biochemical methods to study the effect of mt-rRNA variations, we relied on the universal conservation of the rRNA fold to infer their disruptive potential. Our method, named heterologous inferential analysis or HIA, combines conservational information with functional and structural data obtained from heterologous ribosomal sources. Thus, HIA's predictive power is superior to the traditional reliance on simple conservation indexes. By using HIA, we have been able to evaluate the disruptive potential for a subset of uncharacterized 12S mt-rRNA variations. Our analysis revealed the existence of variations in the rRNA component of the human mitoribosome with different degrees of disruptive power. In cases where sufficient information regarding the genetic and pathological manifestation of the mitochondrial phenotype is available, HIA data can be used to predict the pathogenicity of mt-rRNA mutations. In other cases, HIA analysis will allow the prioritization of variants for additional investigation. Eventually, HIA-inspired analysis of potentially pathogenic mt-rRNA variations, in the context of a scoring system specifically designed for these variants, could lead to a powerful diagnostic tool.
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