Terapia génetica para superar la sordera

Terapia génetica y la sordera

La otoferlina, cuyas mutaciones están relacionadas con la pérdida de audición congénita severa, ha sido descubierta por investigadores estadounidenses.

La otoferlina, cuyas mutaciones están relacionadas con la pérdida de audición congénita severa, ha sido decodificada, según los resultados de un estudio publicado en la revista médica Proceedings of the American Academy of Sciences. Un nuevo paso en el desarrollo de la terapia génetica para la sordera.

Investigadores de la Universidad Estatal de Oregon (OSU) en los Estados Unidos han hecho un gran avance en la lucha contra la sordera. Han desarrollado una forma de estudiar mejor una proteína auditiva esencial, la otoferlina, cuyas mutaciones están relacionadas con la pérdida de audición congénita severa.

La otoferlina, almacenada en la cóclea del oído interno (la parte auditiva del oído interno), actúa como una proteína de unión sensible al calcio. Una mutación en la otoferlina debilita la unión entre la proteína y una sinapsis de calcio en el oído, y las deficiencias en esta interacción podrían ser la causa de la pérdida de audición relacionada con la otoferlina.

El tamaño de la molécula de otoferlina y su baja solubilidad hacen que sea difícil de estudiar, pero los investigadores del OSU College of Science han logrado demostrar que la otoferlina tiene un único propósito: codificar el sonido en las células capilares sensoriales del oído interno. También encontraron que pequeñas mutaciones en la otoferlina podrían llevar a la sordera total.

Un nuevo enfoque terapéutico

Esta proteína es demasiado grande para ser utilizada en terapia génetica y debe ser truncada. Por lo tanto, es esencial conseguir una versión reducida del gen que pueda restaurar la capacidad auditiva del paciente.

“Estamos tratando de acortar el gen para encontrar una forma truncada que pueda ser utilizada para la terapia génica. Una versión en miniatura de la otoferlina podría permitir a los pacientes recuperar la audición”, concluyen los autores del estudio.

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