ArticleNature genetics2001
A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice.
Article in Nature genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 157 citations in OpenAlex.
- Genome-wide association study for age-related hearing loss (AHL) in the mouse: a meta-analysis.Journal of the Association for Research in Otolaryngology : JARO · 2014Pooled it
- The Role and Research Progress of Mitochondria in Sensorineural Hearing Loss.Molecular neurobiology · 2025Review
- Two mitochondrial DNA polymorphisms modulate cardiolipin binding and lead to synthetic lethality.Nature communications · 2024Article
- Diet and mitonuclear haplotype interactions affect growth rate in a slime mould.Ecology and evolution · 2023Article
- Updated Understanding of the Degenerative Disc Diseases - Causes Versus Effects - Treatments, Studies and Hypothesis.Current genomics · 2020Review
- Low-level mitochondrial heteroplasmy modulates DNA replication, glucose metabolism and lifespan in mice.Scientific reports · 2018Article
- Hearing Improvement in A/J Mice via the Mouse Nerve Growth Factor.Clinical and experimental otorhinolaryngology · 2017Article
- TUFM downregulation induces epithelial-mesenchymal transition and invasion in lung cancer cells via a mechanism involving AMPK-GSK3β signaling.Cellular and molecular life sciences : CMLS · 2016Article
- Anti-apoptotic treatment in mouse models of age-related hearing loss.Journal of otology · 2016Review
- Mitochondrial Involvement in Vertebrate Speciation? The Case of Mito-nuclear Genetic Divergence in Chameleons.Genome biology and evolution · 2015Article
- Risks inherent to mitochondrial replacement.EMBO reports · 2015Article
- New treatment options for hearing loss.Nature reviews. Drug discovery · 2015Review
- Vestibular dysfunction, altered macular structure and trait localization in A/J inbred mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2015Article
- Mitochondrial DNA disease and developmental implications for reproductive strategies.Molecular human reproduction · 2015Review
- Disrupting mitochondrial-nuclear coevolution affects OXPHOS complex I integrity and impacts human health.Genome biology and evolution · 2014Article
- Mitonuclear interactions: evolutionary consequences over multiple biological scales.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2014Review
- Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans.Journal of molecular biology · 2014Article
- Mito-nuclear co-evolution: the positive and negative sides of functional ancient mutations.Frontiers in genetics · 2014Review
- Use of chemical probes to detect mitochondrial ROS by flow cytometry and spectrofluorometry.Methods in enzymology · 2014Article
- Recognition and control of the progression of age-related hearing loss.Rejuvenation research · 2013Review
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5 authors at 2 institutions in 1 country.
Funding
Abstract
The pathophysiologic pathways and clinical expression of mitochondrial DNA (mtDNA) mutations are not well understood. This is mainly the result of the heteroplasmic nature of most pathogenic mtDNA mutations and of the absence of clinically relevant animal models with mtDNA mutations. mtDNA mutations predisposing to hearing impairment in humans are generally homoplasmic, yet some individuals with these mutations have severe hearing loss, whereas their maternal relatives with the identical mtDNA mutation have normal hearing. Epidemiologic, biochemical and genetic data indicate that nuclear genes are often the main determinants of these differences in phenotype. To identify a mouse model for maternally inherited hearing loss, we screened reciprocal backcrosses of three inbred mouse strains, A/J, NOD/LtJ and SKH2/J, with age-related hearing loss (AHL). In the (A/J x CAST/Ei) x A/J backcross, mtDNA derived from the A/J strain exerted a significant detrimental effect on hearing when compared with mtDNA from the CAST/Ei strain. This effect was not seen in the (NOD/LtJ x CAST/Ei) x NOD/LtJ and (SKH2/J x CAST/Ei) x SKH2/J backcrosses. Genotyping revealed that this effect was seen only in mice homozygous for the A/J allele at the Ahl locus on mouse chromosome 10. Sequencing of the mitochondrial genome in the three inbred strains revealed a single nucleotide insertion in the tRNA-Arg gene (mt-Tr) as the probable mediator of the mitochondrial effect. This is the first mouse model with a naturally occurring mtDNA mutation affecting a clinical phenotype, and it provides an experimental model to dissect the pathophysiologic processes connecting mtDNA mutations to hearing loss.
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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.