Gap Junctions and Connexin Expression in the Inner Ear

Forge, Andrew; Becker, DL; Casalotti, Stefano O.; Edwards, Jill; Evans, William Howard; Lench, NJ; Souter, Mark

doi:10.1002/9780470515587.ch9

Cited by 51 publications

(38 citation statements)

References 42 publications

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“…It has been hypothesized that, after auditory transduction, sequestered K ϩ is redistributed via a network of supporting cell gap junctions (Wangemann, 2002). Experimental evidence supporting such a system includes the observation of gap junction plaques in the connective tissue and organ of Corti (Kikuchi et al, 1995(Kikuchi et al, , 2000Forge et al, 1999Forge et al, , 2002Forge et al, , 2003b and the demonstration of extensive intercellular coupling (Santos-Sacchi, 1985, 1986, 1987Mammano et al, 1996;Zhao andSantos-Sacchi, 1998, 2000;Forge et al, 2003a;Beltramello et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

Compartmentalized and Signal-Selective Gap Junctional Coupling in the Hearing Cochlea

Jagger¹,

Forge²

2006

J. Neurosci.

102

114

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Section: Introductionmentioning

confidence: 99%

Compartmentalized and Signal-Selective Gap Junctional Coupling in the Hearing Cochlea

Jagger¹,

Forge²

2006

J. Neurosci.

102

114

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“…Meanwhile, nongenetic and genetic factors were found to almost equally contribute to the etiology of hearing loss in children (8). As genetic factors, the mutations of the gap junction β-2 (GJB2) gene were considered an important cause of SNHL (9)(10)(11)(12). Studies indicate that congenital CMV infection may cause chromosome aberrations, including selective chromosome breakages, chromosome pulverization, premature chromatid condensation, and structural injury to the centrosome (13)(14)(15)(16)(17)(18), e.g., genetic damages on 1q23.3 (14), 1q21, and 1q42 (17).…”

mentioning

confidence: 99%

Does congenital cytomegalovirus infection lead to hearing loss by inducing mutation of the GJB2 gene?

Li¹,

Tan²,

Zhou³

et al. 2013

Pediatr Res

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Background: Congenital cytomegalovirus (CMV) infection and mutation of the gap junction β-2 (GJB2) gene are important causes of sensorineural hearing loss (SNHL). This study aims to determine if congenital CMV infection leads to deafness by inducing GJB2 mutation. Methods: GJB2 gene sequencing and auditory brainstem response testing were performed in 159 neonates (63 with and 96 without CMV infection) from August 2008 to August 2011. For neonates with GJB2 mutation, their parents were further screened for GJB2 sequence. results: The incidence of SNHL was 12.7% in CMV-infected but 0% in uninfected children aged 1-1.5 y (P = 0.000). Similar mutation rates of the GJB2 gene were observed in neonates with or without CMV infection (34.9 vs. 32.3%, respectively, P = 0.734). No significant difference in the mutation rate of GJB2 was found among neonates with CMV infection and SNHL, those with CMV infection and normal hearing, and uninfected newborns with normal hearing (P = 0.438). Mutations 79G>A, 109G>A, 341A>G, and 608T>C were found in neonates with and without CMV infection. All of the above mutations were also found in both or one of the corresponding parents. conclusion: Congenital CMV infections may cause deafness in neonates, but this might be independent of GJB2 gene mutation.

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“…In the auditory system, intercellular channels are formed predominantly by Cx26 but also by Cx30, Cx31, and Cx43 (21,22). Cx26 seems to be involved in maintaining a high-extracellular K concentration in the endolymph by facilitating the circulation of Kϩ ions (23,24).…”

Section: Autosomal Recessive Genes Gjb2 and Gjb6mentioning

confidence: 99%

Deafness Genes in Israel: Implications for Diagnostics in the Clinic

Brownstein

Avraham

2009

Pediatr Res

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ABSTRACT:The identification of the molecular basis of deafness in the last decade has made a remarkable impact on genetic counseling and diagnostics for the hearing impaired population. Since the discovery of the most prevalent form of deafness associated with mutations in the GJB2 (connexin 26) gene, many other genes have been found worldwide, with a subset of these, including unique mutations, in Israel. Here, we review the current status of deafness genes in Israel and report one known mutation in a syndromic form of deafness, Usher syndrome, described in the Jewish Israeli population for the first time. In the future, the identification of specific mutations may be relevant for specific types of treatment.

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Gap Junctions and Connexin Expression in the Inner Ear

Cited by 51 publications

References 42 publications

Compartmentalized and Signal-Selective Gap Junctional Coupling in the Hearing Cochlea

Compartmentalized and Signal-Selective Gap Junctional Coupling in the Hearing Cochlea

Does congenital cytomegalovirus infection lead to hearing loss by inducing mutation of the GJB2 gene?

Deafness Genes in Israel: Implications for Diagnostics in the Clinic

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