Descubren el gen que causa la sordera

Investigadores de la Universidad de Cincinnati y el Hospital Infantil del Centro Médico de Cincinnati, en Estados Unidos, han descubierto una nueva mutación genética responsable de la sordera y la pérdida de la audición asociada con el síndrome de Usher tipo 1. Estos hallazgos, publicados en ‘Nature Genetics’, podrían ayudar a los investigadores a desarrollar nuevas dianas terapéuticas para aquellos con riesgo de padecer este síndrome.

   El síndrome de Usher es un defecto genético que causa sordera, ceguera nocturna y pérdida de la visión periférica a través de la degeneración progresiva de la retina. «En este estudio, hemos identificado el gen que causa sordera en el síndrome de Usher tipo 1, así como de la sordera no asociada con este síndrome, a través del análisis genético de 57 personas procedentes de Pakistán y Turquía», señala Zubair Ahmed, profesor de Oftalmología en Cincinnati e investigador principal de este estudio.

   Ahmed explica que una proteína, llamada CIB2, que se une al calcio dentro de la célula, está asociada con la sordera en el síndrome de Usher tipo 1 y con la pérdida de audición no sindrómica.

   «Hasta la fecha, las mutaciones que afectan a CIB2 son la causa genética más común y frecuente de la pérdida auditiva no sindrómica en Pakistán», señala el investigador, «sin embargo, también hemos encontrado otra mutación de la proteína que contribuye a la sordera en poblaciones turcas«.

   «En modelos animales, CIB2 se encuentra en los estereocilios del oído interno –células ciliadas que responden al movimiento fluido y permiten la audición y el equilibrio – y en las células fotorreceptoras retiniana– que convierten la luz en señales eléctricas en el ojo, permitiendo la visión», explica Saima Riazuddin, del departamento de otorrinolaringología de la Universidad de California, que colabora con los investigadores de Cincinnati.

   Los investigadores observaron que la tinción de CIB2 es a menudo más brillante en las puntas de las filas más cortas de estereocilios que en las filas de estereocilios más largas, que pueden estar implicadas en la señalización del calcio que regula la mecano-transducción eléctrica, un proceso por el cual el oído convierte la energía mecánica en una forma de energía que el cerebro puede reconocer como sonido.

   «Con este conocimiento, estamos un paso más cerca de comprender el mecanismo de la transducción mecano-eléctrica y de la posibilidad de encontrar una diana genética para prevenir la sordera no sindrómica, así como la asociada con el síndrome de Usher tipo 1″, concluye Ahmed.


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