scholarly journals Mouse models to study inner ear development and hereditary hearing loss

2007 ◽  
Vol 51 (6-7) ◽  
pp. 609-631 ◽  
Author(s):  
Lilach M. Friedman ◽  
Amiel A. Dror ◽  
Karen B. Avraham
Keyword(s):  
Hearing Loss ◽  
Inner Ear ◽  
Mouse Models ◽  
Ear Development ◽  
Hereditary Hearing Loss ◽  
Inner Ear Development

scholarly journals Role of microRNAs in inner ear development and hearing loss

Gene ◽  
2019 ◽  
Vol 686 ◽  
pp. 49-55 ◽  
Author(s):  
Rahul Mittal ◽  
George Liu ◽  
Sai P. Polineni ◽  
Nicole Bencie ◽  
Denise Yan ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Inner Ear ◽  
Ear Development ◽  
Inner Ear Development

scholarly journals Genetics of Peripheral Vestibular Dysfunction: Lessons from Mutant Mouse Strains

2014 ◽  
Vol 25 (03) ◽  
pp. 289-301 ◽  
Author(s):  
Sherri M. Jones ◽  
Timothy A. Jones
Keyword(s):  
Hearing Loss ◽  
Inner Ear ◽  
Mouse Models ◽  
Noise Exposure ◽  
Mutant Mouse ◽  
Vestibular Dysfunction ◽  
Mouse Strains ◽  
Neural Function ◽  
Hereditary Hearing Loss ◽  
New Genes

Background: A considerable amount of research has been published about genetic hearing impairment. Fifty to sixty percent of hearing loss is thought to have a genetic cause. Genes may also play a significant role in acquired hearing loss due to aging, noise exposure, or ototoxic medications. Between 1995 and 2012, over 100 causative genes have been identified for syndromic and nonsyndromic forms of hereditary hearing loss. Mouse models have been extremely valuable in facilitating the discovery of hearing loss genes and in understanding inner ear pathology due to genetic mutations or elucidating fundamental mechanisms of inner ear development. Purpose: Whereas much is being learned about hereditary hearing loss and the genetics of cochlear disorders, relatively little is known about the role genes may play in peripheral vestibular impairment. Here we review the literature with regard to genetics of vestibular dysfunction and discuss what we have learned from studies using mutant mouse models and direct measures of peripheral vestibular neural function. Results: Several genes are considered that when mutated lead to varying degrees of inner ear vestibular dysfunction due to deficits in otoconia, stereocilia, hair cells, or neurons. Behavior often does not reveal the inner ear deficit. Many of the examples presented are also known to cause human disorders. Conclusions: Knowledge regarding the roles of particular genes in the operation of the vestibular sensory apparatus is growing, and it is clear that gene products co-expressed in the cochlea and vestibule may play different roles in the respective end organs. The discovery of new genes mediating critical inner ear vestibular function carries the promise of new strategies in diagnosing, treating, and managing patients as well as predicting the course and level of morbidity in human vestibular disease.

scholarly journals Embryonic Origins of Virus-Induced Hearing Loss: Overview of Molecular Etiology

Viruses ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 71
Author(s):  
Maryam Karimi-Boroujeni ◽  
Ali Zahedi-Amiri ◽  
Kevin M. Coombs
Keyword(s):  
Hearing Loss ◽  
Inner Ear ◽  
Molecular Mechanisms ◽  
Primary Root ◽  
World Health ◽  
Otic Vesicle ◽  
Molecular Characteristics ◽  
Ear Development ◽  
Inner Ear Development ◽  
Acquired Hearing Loss

Hearing loss, one of the most prevalent chronic health conditions, affects around half a billion people worldwide, including 34 million children. The World Health Organization estimates that the prevalence of disabling hearing loss will increase to over 900 million people by 2050. Many cases of congenital hearing loss are triggered by viral infections during different stages of pregnancy. However, the molecular mechanisms by which viruses induce hearing loss are not sufficiently explored, especially cases that are of embryonic origins. The present review first describes the cellular and molecular characteristics of the auditory system development at early stages of embryogenesis. These developmental hallmarks, which initiate upon axial specification of the otic placode as the primary root of the inner ear morphogenesis, involve the stage-specific regulation of several molecules and pathways, such as retinoic acid signaling, Sonic hedgehog, and Wnt. Different RNA and DNA viruses contributing to congenital and acquired hearing loss are then discussed in terms of their potential effects on the expression of molecules that control the formation of the auditory and vestibular compartments following otic vesicle differentiation. Among these viruses, cytomegalovirus and herpes simplex virus appear to have the most effect upon initial molecular determinants of inner ear development. Moreover, of the molecules governing the inner ear development at initial stages, SOX2, FGFR3, and CDKN1B are more affected by viruses causing either congenital or acquired hearing loss. Abnormalities in the function or expression of these molecules influence processes like cochlear development and production of inner ear hair and supporting cells. Nevertheless, because most of such virus–host interactions were studied in unrelated tissues, further validations are needed to confirm whether these viruses can mediate the same effects in physiologically relevant models simulating otic vesicle specification and growth.

scholarly journals CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome

2013 ◽  
Vol 23 (2) ◽  
pp. 434-448 ◽  
Author(s):  
Joseph A. Micucci ◽  
Wanda S. Layman ◽  
Elizabeth A. Hurd ◽  
Ethan D. Sperry ◽  
Sophia F. Frank ◽  
...  
Keyword(s):  
Stem Cell ◽  
Retinoic Acid ◽  
Inner Ear ◽  
Neural Stem Cell ◽  
Mouse Models ◽  
Charge Syndrome ◽  
Retinoic Acid Signaling ◽  
Ear Development ◽  
Inner Ear Development

Comparative analysis of conservation and regulatory network on core transcription factors in mouse inner ear development

2013 ◽  
Vol 35 (10) ◽  
pp. 1198-1208
Author(s):  
Zhi-Qiang CHEN ◽  
Xin-Huan HAN ◽  
Qin-Jun WEI ◽  
Guang-Qian XING ◽  
Xin CAO
Keyword(s):  
Transcription Factors ◽  
Comparative Analysis ◽  
Inner Ear ◽  
Regulatory Network ◽  
Ear Development ◽  
Inner Ear Development

scholarly journals Inner Ear and Muscle Developmental Defects in Smpx-Deficient Zebrafish Embryos

2021 ◽  
Vol 22 (12) ◽  
pp. 6497
Author(s):  
Anna Ghilardi ◽  
Alberto Diana ◽  
Renato Bacchetta ◽  
Nadia Santo ◽  
Miriam Ascagni ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Inner Ear ◽  
Hair Cells ◽  
Muscle Fibers ◽  
Underlying Mechanism ◽  
Loss Of Function ◽  
Zebrafish Model ◽  
Developmental Defects ◽  
Inner Ear Development ◽  
Syndromic Hearing Loss

The last decade has witnessed the identification of several families affected by hereditary non-syndromic hearing loss (NSHL) caused by mutations in the SMPX gene and the loss of function has been suggested as the underlying mechanism. In the attempt to confirm this hypothesis we generated an Smpx-deficient zebrafish model, pointing out its crucial role in proper inner ear development. Indeed, a marked decrease in the number of kinocilia together with structural alterations of the stereocilia and the kinocilium itself in the hair cells of the inner ear were observed. We also report the impairment of the mechanotransduction by the hair cells, making SMPX a potential key player in the construction of the machinery necessary for sound detection. This wealth of evidence provides the first possible explanation for hearing loss in SMPX-mutated patients. Additionally, we observed a clear muscular phenotype consisting of the defective organization and functioning of muscle fibers, strongly suggesting a potential role for the protein in the development of muscle fibers. This piece of evidence highlights the need for more in-depth analyses in search for possible correlations between SMPX mutations and muscular disorders in humans, thus potentially turning this non-syndromic hearing loss-associated gene into the genetic cause of dysfunctions characterized by more than one symptom, making SMPX a novel syndromic gene.

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