CDH23 Methylation Status and Presbycusis Risk in Elderly Women

Bouzid, Amal; Smeti, Ibtihel; Chakroun, A.; Loukil, Salma; Gibriel, Abdullah Ahmed; Grati, M’hamed; Ghorbel, Abdelmonem; Masmoudi, Saber

doi:10.3389/fnagi.2018.00241

Cited by 26 publications

(16 citation statements)

References 40 publications

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“…Changes in lifestyle that increase SOD activity in the serum and a reduction in atmospheric oxygen significantly influence aging. Cdh23 was also increasingly expressed in the triple-exposure group ( Figure 6 ) [ 39 ]. However, although a change in the amount of RNA was observed in Cdh23 in this study, studies are needed to identify more accurate gene mutations.…”

Section: Discussionmentioning

confidence: 99%

Induced Short-Term Hearing Loss due to Stimulation of Age-Related Factors by Intermittent Hypoxia, High-Fat Diet, and Galactose Injection

Choi

Lee

et al. 2020

IJMS

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Age-related hearing loss (ARHL) is the most common sensory disorder among the elderly, associated with aging and auditory hair cell death due to oxidative-stress-induced mitochondrial dysfunction. Although transgenic mice and long-term aging induction cultures have been used to study ARHL, there are currently no ARHL animal models that can be stimulated by intermittent environmental changes. In this study, an ARHL animal model was established by inducing continuous oxidative stress to promote short-term aging of cells, determined on the basis of expression of hearing-loss-induced phenotypes and aging-related factors. The incidence of hearing loss was significantly higher in dual- and triple-exposure conditions than in intermittent hypoxic conditions, high-fat diet (HFD), or d-galactose injection alone. Continuous oxidative stress and HFD accelerated cellular aging. An increase in Ucp2, usually expressed during mitochondrial dysfunction, was observed. Expression of Cdh23, Slc26a4, Kcnq4, Myo7a, and Myo6, which are ARHL-related factors, were modified by oxidative stress in the cells of the hearing organ. We found that intermittent hypoxia, HFD, and galactose injection accelerated cellular aging in the short term. Thus, we anticipate that the development of this hearing loss animal model, which reflects the effects of intermittent environmental changes, will benefit future research on ARHL.

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Section: Discussionmentioning

confidence: 99%

Induced Short-Term Hearing Loss due to Stimulation of Age-Related Factors by Intermittent Hypoxia, High-Fat Diet, and Galactose Injection

Choi

Lee

et al. 2020

IJMS

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“…HL has a wide spectrum of clinical manifestations: congenital or late onset, conductional or sensorineural, syndromic or non-syndromic [2]. Approximately, 50% of HL is related to genetic causes [2], meanwhile environmental and age-related HL account for the remaining percentage [3,4]. Nonsyndromic HL (NSHL) is responsible for 70-80% of all hereditary cases of HL.…”

Section: Introductionmentioning

confidence: 99%

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

et al. 2020

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Background: Hearing loss (HL) is the most common sensorineural disorder with high phenotypic and genotypic heterogeneity, which negatively affects life quality. Autosomal recessive non-syndromic hearing loss (ARNSHL) constitutes a major share of HL cases. In the present study, Whole exome sequencing (WES) was applied to investigate the underlying etiology of HL in an Iranian patient with ARNSHL. Methods: A proband from an Iranian consanguineous family was examined via WES, following GJB2 sequencing. WES was utilized to find possible genetic etiology of the disease. Various Bioinformatics tools were used to assess the pathogenicity of the variants. Co-segregation analysis of the candidate variant was carried out. Interpretation of variants was performed according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: WES results showed a novel frameshift (16 bp deletion) variant (p.Ala170Alafs*20) in the LRTOMT gene. This variant, which resides in exon 6, was found to be co-segregating in the family. It fulfils the criteria set by the ACMG guidelines of being pathogenic. Conclusion: Here, we report successful application of WES to identify the molecular pathogenesis of ARNSHL, which is a genetically heterogeneous disorder, in a patient with ARNSHL.

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“…Many of our commonly used hearing loss inbred mouse models carry the Cdh23 c.753A allele [10,47], which are relatively numerous in our studies in mouse models. Mutations of the Cdh23 gene are involved in a spectrum of hearing impairments, including hearing loss with vision loss, Usher syndrome 1D, early-onset progressive hearing loss, and AHL in humans or mouse models.…”

Section: Discussionmentioning

confidence: 99%

An Age-Related Hearing Protection Locus on Chromosome 16 of BXD Strain Mice

Zheng

Kui

et al. 2020

Neural Plasticity

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Inbred mouse models are widely used to study age-related hearing loss (AHL). Many genes associated with AHL have been mapped in a variety of strains. However, little is known about gene variants that have the converse function—protective genes that confer strong resistance to hearing loss. Previously, we reported that C57BL/6J (B6) and DBA/2J (D2) strains share a common hearing loss allele in Cdh23. The cadherin 23 (Cdh23) gene is a key contributor to early-onset hearing loss in humans. In this study, we tested hearing across a large family of 54 BXD strains generated from B6 to D2 crosses. Five of 54 strains maintain the normal threshold (20 dB SPL) even at 2 years old—an age at which both parental strains are essentially deaf. Further analyses revealed an age-related hearing protection (ahp) locus on chromosome 16 (Chr 16) at 57~76 Mb with a maximum LOD of 5.7. A small number of BXD strains at 2 years with good hearing correspond roughly to the percentage of humans who have good hearing at 90 years old. Further studies to define candidate genes in the ahp locus and related molecular mechanisms involved in age-related resilience or resistance to AHL are warranted.

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CDH23 Methylation Status and Presbycusis Risk in Elderly Women

Cited by 26 publications

References 40 publications

Induced Short-Term Hearing Loss due to Stimulation of Age-Related Factors by Intermittent Hypoxia, High-Fat Diet, and Galactose Injection

Induced Short-Term Hearing Loss due to Stimulation of Age-Related Factors by Intermittent Hypoxia, High-Fat Diet, and Galactose Injection

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

An Age-Related Hearing Protection Locus on Chromosome 16 of BXD Strain Mice

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