Genetics of aminoglycoside-induced and prelingual non-syndromic mitochondrial hearing impairment: a review.
Int J Audiol
; 47(11): 702-7, 2008 Nov.
Article
em En
| MEDLINE
| ID: mdl-19031229
ABSTRACT
Pathogenic mitochondrial DNA mutations are most often implicated in inherited and acquired hearing impairment. The current review mainly focuses on the 12S rRNA mitochondrial gene mutations associated with non-syndromic deafness without or after aminoglycosides exposure. Aminoglycoside-induced and nonsyndromic deafness has been shown to have a genetic susceptibility and the pathogenic mitochondrial 12S rRNA A1555G mutation was identified as the primary factor underlying the hearing loss in many familial as well as in genetically unrelated cases, particularly in Asian populations where aminoglycoside antibiotics are commonly used even for minor infections. Many families were shown to transmit the aminoglycoside ototoxicity through matrilineal inheritance and the A1555G mutation in the 12S rRNA gene was frequently identified. The aminoglycoside antibiotics are believed to target the mitochondrial ribosome in the cochlea resulting in abnormal RNA processing or decreased efficiency of translation thereby leading to irreversible auditory dysfunction. Such cases may have a genetic predisposition to aminoglycoside ototoxicity following autosomal dominant, autosomal recessive, X-linked, or mitochondrial pattern of inheritance.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
RNA Ribossômico
/
Genes Mitocondriais
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Aminoglicosídeos
/
Perda Auditiva
/
Antibacterianos
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article