Association between the mitochondrial DNA 4977 common deletion in the hair shaft and hearing loss in presbycusis

Liu, Hong; Han, Yuechen; Wang, Shuai; Wang, Haibo

doi:10.3892/mmr.2014.2877

Cited by 4 publications

(7 citation statements)

References 26 publications

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“…[28] A study by Hong Liu et al suggested a relationship between mtDNA 4977 bp deletion in the hair shaft and the severity of hearing loss in presbycusis. [17] These studies have therefore shown that mtDNA 4977 bp deletion is universally observed in patients with presbycusis.…”

Section: Discussionmentioning

confidence: 99%

“…Through extensive review of related data, this study eventually included 8 Chinese and foreign literature for meta-analysis. [17,27–32] The meta-analysis showed that the risk of mtDNA 4977 deletion in presbycusis increased (OR = 7.84, 95% CI: 3.63∼16.93). The OR values obtained after sensitivity analysis fluctuated between 4.57 and 10.63.…”

Section: Discussionmentioning

confidence: 99%

“…Although some authors reported an association between 4977 bp deletion and aging, [12,13,15,16] several studies in humans have shown an association between presbycusis and mtDNA deletion. [17–19] It is still unknown how relevant it is and whether mtDNA 4977 can be used as a susceptibility gene for presbycusis. The primary aim of the current meta-analysis is to explore the effects of 4977 bp deletion and presbycusis by performing a quantitative analysis of available published data about this subject.…”

Section: Introductionmentioning

confidence: 99%

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Correlation between mitochondrial DNA 4977 bp deletion and presbycusis

Han

Zhou

et al. 2019

Medicine

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Objective: Researchers have evaluated the associations between mitochondrial DNA (mtDNA) 4977 bp deletion and presbycusis. This study aimed to assess the differences of mtDNA 4977 bp deletion between presbycusis patients and controls by conducting a meta-analysis of published studies. Methods: Databases, including PubMed, Embase, Web of Science, China National Knowledge Infrastructure (CNKI), and Wanfang Data were searched to collect case–control studies on the correlation between mitochondrial DNA 4977 bp deletion and presbycusis. The research findings of related articles were collected according to the inclusion criteria. Pooled odds ratios (ORs) and corresponding confidence intervals (CIs) were calculated. Meanwhile, subgroup analysis was performed to examine the source of heterogeneity. Revman 5.3 and Stata 12.0 software were used for data synthesis. Results : Eight English and Chinese studies were included in the meta-analysis, the results of which showed that mitochondrial DNA 4977 bp deletion could increase the risk of presbycusis (OR = 8.16, 95% CI: 3.51–18.99), and the difference was statistically significant ( P <. 01). Analysis of the polled OR showed the incidence of mtDNA 4977 bp deletion was 8.50 times higher in Asians with presbycusis than in the control group. And the OR in the studies of occidentals was 7.24. Sample source analysis was also performed with the sample source divided by temporal bone source and other sources (hair and blood). The OR was 4.18 and 22.36 for the temporal bone and other sources, respectively. Conclusion: Mitochondrial DNA 4977 bp deletion could increase the risk of presbycusis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Correlation between mitochondrial DNA 4977 bp deletion and presbycusis

Han

Zhou

et al. 2019

Medicine

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“…Subsequently, Markaryan et al25 described three extra big deletions of 5,354, 5,142, and 9,682 bp in the mitochondrial cytochrome c oxidase subunit III gene ( MT-CO3 ), in the structural element of the cochlea in patients with presbycusis. Further investigations revealed a significant relationship between the level of deletion and the severity of hearing loss in presbycusis 15,16. In addition to large deletions, point mutations in the mitochondrial genome have been determined as important factors in presbycusis 24,26.…”

Section: Discussionmentioning

confidence: 99%

“…The control region is composed of three hypervariable regions (HVR), HVR-I at 16,024−16,383, HVR-II at 57−372, and HVR-III at 438−574 (numbering according to NCBI Accession No NC_0122920.1) 13. A strong relationship between mtDNA coding region variation and presbycusis has also been reported in the literature;14–16 however, little is known about the relationship between variation in the mtDNA control region and the progression of presbycusis. Advances in the understanding of the intracellular mechanisms underlying presbycusis could lead to the development of diagnostic markers and therapies to slow or reverse the adverse changes in the auditory system characteristic of this disorder.…”

Section: Introductionmentioning

confidence: 91%

Association of genetic variations in the mitochondrial DNA control region with presbycusis

Falah¹,

Farhadi²,

Kamrava³

et al. 2017

CIA

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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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Analyses of Mitochondrial DNA and Immune Phenotyping Suggest Accelerated T-Cell Turnover in Treated HIV

Massanella

Karris

Pérez-Santiago

et al. 2018

JAIDS Journal of Acquired Immune Deficiency Syndromes

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Background: HIV infection is associated with premature aging and mitochondrial integrity is compromised during the aging process. Since mitochondrial toxicity is a consequence of antiretroviral therapies (ART), we hypothesized HIV and long-term ART would correlate with immunosenescence and mitochondrial DNA (mtDNA) pathology. Setting: Thirteen older HIV-infected individuals (age >40 years) with virologic suppression (stratified by duration of ART) were compared to ten uninfected controls well-matched for age. Methods: Peripheral blood T-cells were immunophenotyped to measure immune activation, proliferation, and immunosenescence in subsets. MtDNA copies/cell and the relative abundance of mtDNA carrying the “common deletion” (RACD) were quantified by droplet digital PCR. Results: Immune activation was higher in HIV-infected individuals than uninfected in mature CD4+ T-cell subsets (CD4+TTM p=0.025, CD4+TEM p=0.0020) regardless of ART duration. Cell populations from uninfected individuals were more likely to be more senescent populations in mature CD4+ T-cell subsets (TTM p=0.017), and CD8+ (CD8+TEMRA+ p=0.0026). No differences were observed in mtDNA or RACD levels in any CD4+ T-cell subsets, while CD8+TSCM of infected individuals trended to have more mtDNA (p=0.057) and reduced RACD (p=0.0025). Conclusion: HIV-infected individuals demonstrated increased immune activation, but reduced senescence in more mature T-cell subsets. Increased mtDNA content and lower RACD in CD8+TSCM suggest immune activation driven turnover of these cells in HIV-infected persons.

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Association between the mitochondrial DNA 4977 common deletion in the hair shaft and hearing loss in presbycusis

Cited by 4 publications

References 26 publications

Correlation between mitochondrial DNA 4977 bp deletion and presbycusis

Correlation between mitochondrial DNA 4977 bp deletion and presbycusis

Association of genetic variations in the mitochondrial DNA control region with presbycusis

Analyses of Mitochondrial DNA and Immune Phenotyping Suggest Accelerated T-Cell Turnover in Treated HIV

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