Solución parcial en ratones para enfermedades genéticas (Síndrome de Usher)

NUEVA ORLEANS – En un paso prometedor contra una enfermedad genética que causa sordera y la pérdida gradual de la visión, los científicos han restaurado parcialmente la audición con una sola inyección a ratones jóvenes. Los expertos elogiaron el estudio sobre el síndrome de Usher, publicado la semana pasada en Internet por la revista Nature Medicine, pero los resultados son todavía un largo camino desde la prevención de la enfermedad.

Los niños con síndrome de Usher – se estima que uno de cada 6.000 a 7.500 niños en todo el mundo – han nacido sordos. El componente visual de la enfermedad, llamada retinitis pigmentosa, a menudo comienza en la niñez, pero los problemas graves son más probables en la adolescencia y la edad adulta joven. Alrededor de la mitad de los adultos con síndrome de Usher es posible leer un periódico en sus años 50.

Algunos grupos, como los Cajuns de Luisiana y acadienses del Canadá, tienen una prevalencia excepcionalmente alta de la enfermedad. En el estudio, Michelle Hastings of Chicago Medical School y Jennifer Lentz de la Louisiana State University Health Science Center encontró que una inyección permitió a ratones afectados escuchar durante meses. La inyección, o el parche, es un fragmento creada en laboratorio de ARN, que es un primo químico del ADN. El parche fue diseñado para interferir con los efectos de un gen defectuoso.

«Es un hallazgo muy prometedora y sorprendente», dijo el doctor Henry Paulson, un especialista de la Universidad de Michigan en enfermedades neurodegenerativas.

«Curar a un ratón es muy diferente de curar a un ser humano», dijo, pero él es cautelosamente optimista.

Lentz, autor principal del estudio, y Hastings, autor principal, ha recibido una subvención de 1,3 millones de dólares de los Institutos Nacionales de Salud durante cuatro años más de estudios con ratones para conocer los efectos físicos del tratamiento y para refinar el momento de los disparos.

El tiempo erosiona los efectos del parche gen inhibidor sobre el ARN defectuosos, y los investigadores planean probar si las vacunas de refuerzo retienen la audición en ratones tratados. También están comenzando a trabajar para ver si el tratamiento evita la pérdida gradual de la visión.

Al menos 13 genes son conocidos por causar el síndrome de Usher. Los bebés deben tener el mismo gen defectuoso de cada padre para desarrollar el síndrome. Un gen hace que todos los casos en acadios y Cajuns. Otra es común en Finlandia y una tercera en población judía Ashkenazi, dijo Mark Dunning, director de la Coalición para la Investigación de Síndrome de Usher.

Cada tendría su propio parche, llamado un oligonucleótido antisentido, o ASO. ASO tratamientos están siendo estudiados para docenas de condiciones, incluyendo la distrofia muscular de Duchenne, el asma y muchos tipos de cáncer. OSS utilizados en la investigación Usher fueron hechas por Isis Pharmaceuticals Inc., con la que tiene una sociedad de Hastings. No hay manera de saber cuándo podrán comenzar las pruebas para un posible tratamiento humano . «Esperamos años en lugar de décadas», dijo Lentz.

Pero Elise Faucheaux, de Youngsville, en el país de Louisiana Cajun, ya ha dicho a Lentz que ella está interesada en los ensayos clínicos de su hijo, Hunter, que es de 23 meses de edad y tiene Usher. Los implantes cocleares permiten oír Hunter, y la terapia le ha permitido sentarse, pararse y jugar con normalidad. Por ahora, su visión es normal.

Faucheaux dijo que espera que la gente aprende acerca de la condición para que no estés cegado después del nacimiento de un bebé. Ella dijo que tiene un primo con Sindrome de Usher, pero no sabía la condición era genética hasta que Hunter tenía pocos meses de edad.

«Mucha gente de por aquí nunca han oído hablar de ello», dijo.

Ese es uno de los obstáculos para el tratamiento temprano. La prevención de la sordera probablemente requeriría el diagnóstico de la enfermedad en el útero y no en la primera infancia o en la adolescencia, como es habitual ahora. La gente en grupos con una alta prevalencia tendría que hacerse la prueba de uno de los genes defectuosos que causan Usher. Si cada padre tenía uno, su feto se pondrá a prueba.

Dunning, cuyos 14 años de edad, hija tiene el síndrome de Down, era a la vez entusiasta y precavido con los nuevos resultados: «Creo que es emocionante que tiene el potencial de ayudar realmente a los niños nacidos con síndrome de Usher – si funciona como esperamos.».

Fuente: www.miamiherald.com

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