Genetics of non syndromic hearing loss

Venkatesh, M.D.; Moorchung, Nikhil; Puri, Bipin

doi:10.1016/j.mjafi.2015.07.003

Cited by 30 publications

(25 citation statements)

References 23 publications

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“…The loss of hair cells in the organ of the cochlea or Corti leads to a significant proportion of hearing impairment [6]. Moreover, hearing loss arises from various etiologies, such as over-stimulation of hair cells, ototoxic drugs, trauma to the head or gene mutations [7][8][9].…”

Section: Introductionmentioning

confidence: 99%

Up-regulation of autophagy and apoptosis of cochlear hair cells in mouse models for deafness

Cheng

Yan

2021

Arch Med Sci

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Introduction: Hearing loss is one of the most common sensory disorders. Recent findings have shown that the apoptotic program and autophagy are related to hearing loss. The aim of study was to explore the effects of noise and cisplatin exposure on apoptosis and autophagy in the hair cells of the cochleae. Material and methods: C57BL/6 mice were randomly divided into 3 groups (n = 10 for each): the control group, the noise model group and the cisplatin model group. Auditory brainstem response (ABR) measurements were used to detect the hearing thresholds. TUNEL assay was used to evaluate cell apoptosis. Western blot and immunofluorescence were performed to examine the apoptosis-and autophagy-related proteins. Results: The mice exhibited substantial hearing loss after noise and cisplatin exposure. Additionally, more TUNEL positive cells were observed in the mice after noise and cisplatin exposure compared with the control group. Moreover, the protein expression levels of Beclin-1, LC3-II, Bax and cleaved caspase-3 were significantly increased, while the expression of Bcl-2 was notably decreased in the cochlea after noise (p = 0.0278, 0.0075, 0.0142, 0.0158, 0.0131 respectively) and cisplatin (p = 0.0220, 0.0075, 0.0024, 0.0161, 0.0452 respectively) exposure compared with the control group. Besides, the ratio of LC3-II/LC3-I was substantially higher in the mice treated by cisplatin (p = 0.0046) and noise (p = 0.0220) compared with the control group. Conclusions: Our findings demonstrated for the first time that noise and cisplatin exposure promoted apoptosis and autophagy in the hair cells of the cochleae. This study provides new insights into the mechanisms of noise-or cisplatin-induced hearing loss.

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Section: Introductionmentioning

confidence: 99%

Up-regulation of autophagy and apoptosis of cochlear hair cells in mouse models for deafness

Cheng

Yan

2021

Arch Med Sci

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“…DFNB2 is a rare AR disorder, resulting in severe progressive hearing dysfunction with either congenital or early childhoodonset (Hildebrand et al, 2010). DFNA11 is an autosomal (Tamagawa et al, 1996;Venkatesh et al, 2015). The phenotype, either syndromic or isolated HL, is dependent on the location and nature of the mutation within the MYO7A gene, and is the result of allelic heterogeneity (Weil et al, 1997;Venkatesh et al, 2015).…”

Section: Mutationsmentioning

confidence: 99%

Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy

Whatley

Francis

et al. 2020

Front. Genet.

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Usher syndrome (USH) is an autosomal recessive (AR) disorder that permanently and severely affects the senses of hearing, vision, and balance. Three clinically distinct types of USH have been identified, decreasing in severity from Type 1 to 3, with symptoms of sensorineural hearing loss (SNHL), retinitis pigmentosa (RP), and vestibular dysfunction. There are currently nine confirmed and two suspected USH-causative genes, and a further three candidate loci have been mapped. The proteins encoded by these genes form complexes that play critical roles in the development and maintenance of cellular structures within the inner ear and retina, which have minimal capacity for repair or regeneration. In the cochlea, stereocilia are located on the apical surface of inner ear hair cells (HC) and are responsible for transducing mechanical stimuli from sound pressure waves into chemical signals. These signals are then detected by the auditory nerve fibers, transmitted to the brain and interpreted as sound. Disease-causing mutations in USH genes can destabilize the tip links that bind the stereocilia to each other, and cause defects in protein trafficking and stereocilia bundle morphology, thereby inhibiting mechanosensory transduction. This review summarizes the current knowledge on Usher syndrome with a particular emphasis on mutations in USH genes, USH protein structures, and functional analyses in animal models. Currently, there is no cure for USH. However, the genetic therapies that are rapidly developing will benefit from this compilation of detailed genetic information to identify the most effective strategies for restoring functional USH proteins.

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“…Other gene related to GJB2 is GJB6 that encodes for connexin 30 protein. Studies show that both genes can be inherited together and 8% of patients with GJB2 mutation also carry mutation in GJB6 [40].…”

Section: Autosomal Recessive Nshlmentioning

confidence: 99%

Genetics and Acquired Hearing Loss

Alkowari¹,

Guarch²

2019

Geriatric Medicine and Gerontology

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Hearing loss (HL) is a worldwide disease with substantial economic costs for the public health. Around 466 million people have disabling hearing loss and the WHO estimated that by 2050 over 900 million people will suffer hearing loss. Several factors including infections, noise-exposure, ototoxic medications or genetic disorders could cause hearing impairment. Hearing devices such as cochlear implants and aids are the current therapies. Although the prevalence of hearing loss is very high, alternative treatments as pharmaceutical agents are currently insufficient. Within the past years, increased knowledge on hearing loss etiology and physiopathology opened new opportunities for future research towards hearing loss treatment. Here we aim to review current bibliography on genetics factors involved in hearing loss.

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Genetics of non syndromic hearing loss

Cited by 30 publications

References 23 publications

Up-regulation of autophagy and apoptosis of cochlear hair cells in mouse models for deafness

Up-regulation of autophagy and apoptosis of cochlear hair cells in mouse models for deafness

Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy

Genetics and Acquired Hearing Loss

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