Navigating Hereditary Hearing Loss: Pathology of the Inner Ear

Nicolson, Teresa

doi:10.3389/fncel.2021.660812

Cited by 11 publications

(7 citation statements)

References 61 publications

(77 reference statements)

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“…Like hearing loss ( 49 , 88 ), vestibular disorders may have multiple causes, including genetics, aging, drugs, immune and environmental factors (e.g., infections, noise exposure) ( 89 ). The prevalence of vestibular impairment is high in children and adults with sensorineural hearing loss (SNHL), between 20 and 70% ( 90 , 91 ).…”

Section: Vestibular Disorders Associated With Hearing Loss: Diversity...mentioning

confidence: 99%

“…As a result, the available mutant mice, most of which also display vestibular deficits ( Table 1 ; Supplementary Table S1 ), have provided valuable information about the key pathways leading to vestibular dysfunction. In studies of organ patterning or MET, the use of more distantly related animal models, such as zebrafish, Drosophila , or C. elegans , has facilitated the identification of key conserved core biological features and highlighted species-specific features ( 88 , 153 – 157 ).…”

Section: Detailed Mechanisms Of Vestibular Function: Insight From Ani...mentioning

confidence: 99%

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Vestibular Deficits in Deafness: Clinical Presentation, Animal Modeling, and Treatment Solutions

2022

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The inner ear is responsible for both hearing and balance. These functions are dependent on the correct functioning of mechanosensitive hair cells, which convert sound- and motion-induced stimuli into electrical signals conveyed to the brain. During evolution of the inner ear, the major changes occurred in the hearing organ, whereas the structure of the vestibular organs remained constant in all vertebrates over the same period. Vestibular deficits are highly prevalent in humans, due to multiple intersecting causes: genetics, environmental factors, ototoxic drugs, infections and aging. Studies of deafness genes associated with balance deficits and their corresponding animal models have shed light on the development and function of these two sensory systems. Bilateral vestibular deficits often impair individual postural control, gaze stabilization, locomotion and spatial orientation. The resulting dizziness, vertigo, and/or falls (frequent in elderly populations) greatly affect patient quality of life. In the absence of treatment, prosthetic devices, such as vestibular implants, providing information about the direction, amplitude and velocity of body movements, are being developed and have given promising results in animal models and humans. Novel methods and techniques have led to major progress in gene therapies targeting the inner ear (gene supplementation and gene editing), 3D inner ear organoids and reprograming protocols for generating hair cell-like cells. These rapid advances in multiscale approaches covering basic research, clinical diagnostics and therapies are fostering interdisciplinary research to develop personalized treatments for vestibular disorders.

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Section: Vestibular Disorders Associated With Hearing Loss: Diversity...mentioning

confidence: 99%

Section: Detailed Mechanisms Of Vestibular Function: Insight From Ani...mentioning

confidence: 99%

Vestibular Deficits in Deafness: Clinical Presentation, Animal Modeling, and Treatment Solutions

2022

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“…Signal Transmission by Auditory and Vestibular Hair Cells DOI: http://dx.doi.org/10.5772/intechopen.107944 damage, genetic mutation or ageing. More and more gene mutations are becoming identified that produce, or cause predisposition to, inner ear disorders due to hair cell malfunction or even death [30,31]. At the end of this chapter, we look at the different strategies that are being developed as potential therapies to regenerate hair cells or to restore their function.…”

Section: ) Right: In the Vestibular Epithelia Afferent Nerve Terminal...mentioning

confidence: 99%

Signal Transmission by Auditory and Vestibular Hair Cells

Masetto¹,

Spaiardi²,

Johnson³

2022

Recent Advances in Audiological and Vestibular Research

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We interact with the world around us by sensing a vast array of inputs and translating them into signals that can be interpreted by the brain. We have evolved many sensory receptors, each uniquely specialised to detect diverse stimuli. The hair cells are sensory receptors, initially developed to provide a sense of body position and movement, but later adapted to sense minute pressure waves in the environment that are perceived as sounds. As such, hair cells bestow a sense of hearing and balance, which are major advantages for survival. Mammals have four different types of hair cell, two of which are dedicated to hearing, the inner and outer hair cells, and the other two to balance, the type-I and type-II hair cells. While all hair cells employ common mechanisms to detect and relay signals from sound or motion, they also have unique attributes that specialise them for a specific functional role. In this chapter we describe the process of signal transmission in mammalian auditory and vestibular hair cells. Since mammalian hair cells do not regenerate, their loss results in permanent auditory or vestibular deficit. Efforts to regenerate or repair malfunctioning hair cells have recently intensified, mainly through gene, stem-cell and molecular therapy.

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“…The SV plays an important role in HHL pathogenesis. Several researchers have previously summarized the histopathologic findings associated with these genetic mutations, and atrophy or fibrosis of the SV has been observed in many cases, often caused by mutations in GJB2, COCH, and MYH9, as well as by Usher syndrome, and Alport syndrome (Bommakanti et al, 2019;Nicolson, 2021). Syndromic and non-syndromic hereditary hearing loss are the two main forms of hereditary hearing loss (HHL) (Egilmez and Kalcioglu, 2016).…”

Section: Hereditary Hearing Lossmentioning

confidence: 99%

Role of the Stria Vascularis in the Pathogenesis of Sensorineural Hearing Loss: A Narrative Review

Zong

et al. 2021

Front. Neurosci.

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Sensorineural hearing loss is a common sensory impairment in humans caused by abnormalities in the inner ear. The stria vascularis is regarded as a major cochlear structure that can independently degenerate and influence the degree of hearing loss. This review summarizes the current literature on the role of the stria vascularis in the pathogenesis of sensorineural hearing loss resulting from different etiologies, focusing on both molecular events and signaling pathways, and further attempts to explore the underlying mechanisms at the cellular and molecular biological levels. In addition, the deficiencies and limitations of this field are discussed. With the rapid progress in scientific technology, new opportunities are arising to fully understand the role of the stria vascularis in the pathogenesis of sensorineural hearing loss, which, in the future, will hopefully lead to the prevention, early diagnosis, and improved treatment of sensorineural hearing loss.

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Navigating Hereditary Hearing Loss: Pathology of the Inner Ear

Cited by 11 publications

References 61 publications

Vestibular Deficits in Deafness: Clinical Presentation, Animal Modeling, and Treatment Solutions

Vestibular Deficits in Deafness: Clinical Presentation, Animal Modeling, and Treatment Solutions

Signal Transmission by Auditory and Vestibular Hair Cells

Role of the Stria Vascularis in the Pathogenesis of Sensorineural Hearing Loss: A Narrative Review

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