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Titolo:
Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26 gene
Autore:
Lefebvre, PP; Van de Water, TR;
Indirizzi:
Univ Liege, Dept Human Physiol & Pathophysiol, B-4020 Liege, Belgium Univ Liege Liege Belgium B-4020 ol & Pathophysiol, B-4020 Liege, Belgium Univ Liege, Dept Otorhinolaryngol, B-4020 Liege, Belgium Univ Liege Liege Belgium B-4020 Otorhinolaryngol, B-4020 Liege, Belgium Albert Einstein Coll Med, Dept Otolaryngol, Bronx, NY 10467 USA Albert Einstein Coll Med Bronx NY USA 10467 laryngol, Bronx, NY 10467 USA Albert Einstein Coll Med, Dept Neurosci, Bronx, NY 10467 USA Albert Einstein Coll Med Bronx NY USA 10467 Neurosci, Bronx, NY 10467 USA
Titolo Testata:
BRAIN RESEARCH REVIEWS
fascicolo: 1, volume: 32, anno: 2000,
pagine: 159 - 162
SICI:
0165-0173(200004)32:1<159:CHADCA>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECESSIVE DEAFNESS; GJB2;
Keywords:
inner ear; deafness; hearing;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Lefebvre, PP Univ Liege, Dept Human Physiol & Pathophysiol, Pl Delcour 17,B-4020 Liege, Belgium Univ Liege Pl Delcour 17 Liege Belgium B-4020 Liege, Belgium
Citazione:
P.P. Lefebvre e T.R. Van de Water, "Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26 gene", BRAIN RES R, 32(1), 2000, pp. 159-162

Abstract

Congenital deafness is a very frequent disorder occuring in approximately 1 in 1000 live births. Mutations in GJB2 encoding for gap junction protein connexin-26 (Cx26) have been established as the basis of autosomal recessive non-syndromic hearings loss and proposed in some rare cases of autosomal dominant form of deafness. Connexin are gap-junction proteins which constitute a major system of intercellular communication important in the exchangeof electrolytes, second messengers and metabolites. In the inner ear, connexin 26 expression was demonstrated in the stria vascularis, basement membrane, limbus and the spiral prominence of the human cochlea. The loss of connexin 26 in the gap junction complex would expect to disrupt the recycling of potassium from the synapses at the base of hair cells through the supporting cells and fibroblasts of potassium ions back to the high potassium containing endolymph of the cochlear duct and therefore would result in a local intoxication of the Corti's organ by potassium, leading to the hearing loss. The discovery of the genes responsible of hearing loss in particular the identification of mutations in the gene coding for connexin 26 allows to hope some tremendous help in genetic counseling. The possible implication of the mutation of the connexin gene in the pathophysiology of some progressive adult deafness opens new prospects in the fine dignostic of the ear diseases and eventually may lead to new therapeutic strategies applied to the cochlea. (C) 2000 Elsevier Science B.V. All rights reserved.

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Documento generato il 16/07/20 alle ore 06:38:06