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Las mutaciones en el gen que codifica la claudina-14 de unión apretada causan sordera autosómica recesiva DFNB29

E R Wilcox¹, Q L Burton, S Naz

¹Laboratory of Molecular Genetics, 5 Research Court, NIDCD/NIH, Rockville, MD 20850, USA. wilcoxe@nidcd.nih.gov

|February 13, 2001

Resumen

Las mutaciones en el gen CLDN14 causan sordera recesiva no síndroma (DFNB29). Este estudio identifica a CLDN14 como esencial para la función del oído interno y la estructura del neuroepitelio auditivo.

Área de la Ciencia:

Genética La genética.
La otorrinolaringología otorrinolaringología.
Biología Molecular Biología Molecular

Sus antecedentes:

Las uniones estrechas en el conducto coclear son cruciales para la compartimentación de la endolinfa y el apoyo estructural del neuroepitelio auditivo.
La familia de genes de la claudina codifica los componentes proteicos de las uniones estrechas, vitales para la función de barrera celular en varios tejidos.

Objetivo del estudio:

Para investigar el papel de las proteínas de la familia de la claudina en la función del oído interno.
Para identificar la base genética de la sordera recesiva no síndroma DFNB29.

Principales métodos:

Análisis genético de familias consanguíneas con DFNB29.
Estudios de hibridación in situ y de inmunofluorescencia en ratones.

Principales resultados:

Se identificaron mutaciones en CLDN14 como la causa de DFNB29 en dos familias paquistaníes.
La expresión de claudina-14 del ratón se localizó en el epitelio sensorial del órgano de Corti.

Conclusiones:

CLDN14 es esencial para el desarrollo y la función normal del oído interno.
Los defectos en CLDN14 conducen a una sordera recessiva no síndroma.
La Claudina-14 juega un papel crítico en el mantenimiento de la integridad del neuroepitelio auditivo.

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