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PLoS Biol ; 17(4): e3000194, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30973865

RESUMO

Adult-onset hearing loss is very common, but we know little about the underlying molecular pathogenesis impeding the development of therapies. We took a genetic approach to identify new molecules involved in hearing loss by screening a large cohort of newly generated mouse mutants using a sensitive electrophysiological test, the auditory brainstem response (ABR). We review here the findings from this screen. Thirty-eight unexpected genes associated with raised thresholds were detected from our unbiased sample of 1,211 genes tested, suggesting extreme genetic heterogeneity. A wide range of auditory pathophysiologies was found, and some mutant lines showed normal development followed by deterioration of responses, revealing new molecular pathways involved in progressive hearing loss. Several of the genes were associated with the range of hearing thresholds in the human population and one, SPNS2, was involved in childhood deafness. The new pathways required for maintenance of hearing discovered by this screen present new therapeutic opportunities.


Assuntos
Percepção Auditiva/genética , Potenciais Evocados Auditivos do Tronco Encefálico/genética , Perda Auditiva/genética , Estimulação Acústica/métodos , Adulto , Animais , Proteínas de Transporte de Ânions/genética , Criança , Fenômenos Eletrofisiológicos/genética , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Feminino , Estudos de Associação Genética , Audição/genética , Perda Auditiva/metabolismo , Humanos , Masculino , Camundongos , Camundongos Endogâmicos C57BL
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