ArticleClinical interventions in aging2017
Association of genetic variations in the mitochondrial DNA control region with presbycusis.
Article in Clinical interventions in aging, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Sensory decline in aging and neurodegeneration: A mitochondrial perspective.Pharmacological research · 2026Review
- Age-related hearing loss involves mitochondrial DNA instability and copy number depletion in the cochlea: Insights from in vivo and in vitro models.Hearing research · 2026Article
- Assessing mitochondrial phenotypes in a cybrid model of dry age-related macular degeneration.Molecular vision · 2026Article
- Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12.BMC medical genomics · 2023Article
- Article
- Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.medRxiv : the preprint server for health sciences · 2023Article
- Induced Pluripotent Stem Cells, a Stepping Stone to In Vitro Human Models of Hearing Loss.Cells · 2022Review
- Systems Genetic Identification of Mitochondrion-Associated Alzheimer's Disease Genes and Implications for Disease Risk Prediction.Biomedicines · 2022Article
- Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness.BMC medical genomics · 2022Article
- Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Article
- Open chromatin dynamics in prosensory cells of the embryonic mouse cochlea.Scientific reports · 2019Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe prominent role of mitochondria in the generation of reactive oxygen species, cell death, and energy production contributes to the importance of this organelle in the intracellular mechanism underlying the progression of the common sensory disorder of the elderly, presbycusis. Reduced mitochondrial DNA (mtDNA) gene expression and coding region variation have frequently been reported as being associated with the development of presbycusis. The mtDNA control region regulates gene expression and replication of the genome of this organelle. To comprehensively understand of the role of mitochondria in the progression of presbycusis, we compared variations in the mtDNA control region between subjects with presbycusis and controls.
methodsA total of 58 presbycusis patients and 220 control subjects were enrolled in the study after examination by the otolaryngologist and audiology tests. Variations in the mtDNA control region were investigated by polymerase chain reaction and Sanger sequencing.
resultsA total of 113 sequence variants were observed in mtDNA, and variants were detected in 100% of patients, with 84% located in hypervariable regions. The frequencies of the variants, 16,223 C>T, 16,311 T>C, 16,249 T>C, and 15,954 A>C, were significantly different between presbycusis and control subjects.
conclusionThe statistically significant difference in the frequencies of four nucleotide variants in the mtDNA control region of presbycusis patients and controls is in agreement with previous experimental evidence and supports the role of mitochondria in the intracellular mechanism underlying presbycusis development. Moreover, these variants have potential as diagnostic markers for individuals at a high risk of developing presbycusis. The data also suggest the possible presence of changes in the mtDNA control region in presbycusis, which could alter regulatory factor binding sites and influence mtDNA gene expression and copy number.
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