Excodra Barcelonra
IRB (Institute for Research in Biomedicine)

IRB (Institute for Research in Biomedicine)

El IRB Barcelona es un centro de investigación de primer nivel dedicado a estudiar cuestiones fundamentales de la salud y las enfermedades humanas. El IRB Barcelona fue fundado en octubre de 2005 por la Generalitat de Catalunya y la Universidad de Barcelona, y está situado en el Parque Científico de Barcelona. C/ Baldiri Reixac 10. 08028 Barcelona. http://www.irbbarcelona.org

Descubren la implicación de un transportador de aminoácidos en la sordera asociada a la edad

Fuente: IRB - UB | Publicado: 13-03-2018
Todo indica que el transportador de aminoácidos SLC7A8/SLC3A2 tiene un papel relevante en esta patología.
El estudio fue coordinado por Manuel Palacín del IRB Barcelona y Virginia Nunes de IDIBELL.
Derechos: En la sordera asociada a la edad están implicados múltiples genes y factores ambientales. Imagen: CIBERER
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La sordera asociada a la edad es una patología de origen multifactorial que afecta a casi uno de cada tres individuos entre los 65 y los 74 años. Todo indica que el transportador de aminoácidos SLC7A8/SLC3A2 tiene un papel relevante en esta patología, según la investigación coordinada por los investigadores Manuel Palacín del Instituto de Investigación Biomédica (IRB Barcelona) y Virginia Nunes del Instituto de Investigación Biomédica de Bellvitge (IDIBELL).


El estudio, publicado en la revista eLife, perfila un nuevo escenario de investigación que podría vincular los transportadores de aminoácidos con un porcentaje significativo de sorderas genéticas no explicadas hasta ahora. También participan en el trabajo los expertos Isabel Varela Nieto (CSIC/UAM), Mara Dierssen (CRG-CIBERER), Meritxell Espino (Centro Médico y de Investigación Sidra, Qatar) y Paolo Gasparini (Universidad de Trieste, Italia), entre otros.



En la sordera asociada a la edad están implicados múltiples genes y factores ambientales. La patología se manifiesta clínicamente como un defecto de audición bilateral neurosensorial y progresivo, que afecta a los sonidos de alta frecuencia y causa pérdida de células ciliadas en el órgano de Corti, así como atrofia de la estría vascular y degeneración de neuronas del ganglio espiral y de la vía auditiva central.


El protocolo experimental del nuevo trabajo ha seguido un itinerario particular: de la detección de un fenotipo concreto de sordera en un modelo animal de laboratorio hasta el análisis de pacientes y la posterior secuenciación del gen similar (ortólogo) en humanos. El nuevo trabajo aborda el análisis del fenotipado —es decir, la caracterización molecular, morfológica y funcional— del modelo de ratón transgénico (que no expresa el gen Slc7a8) generado por los equipos de Virginia Nunes y Manuel Palacín.



La colaboración de los grupos liderados por Isabel Valera Nieto y Mara Dierssen confirmó que el gen Slc7a8  —que codifica para una de las subunidades del transportador de aminoácidos LAT2— se expresa en el oído interno de ratón, por lo que su ausencia produce sordera asociada con la edad por los efectos en estructuras cocleares (órgano de Corti, ganglio espiral, estría vascular, etc.).


La investigación llevada a cabo con muestras de origen humano, los estudios clínicos y la búsqueda de mutaciones estuvieron a cargo de los grupos de Paolo Gasparini y Meritxell Espino, que fueron clave para identificar varias mutaciones en el gen SLC7A8 en un grupo de pacientes de dos pueblos aislados de Italia que mostraban sordera asociada a la edad. Posteriormente, estas mutaciones fueron comprobadas de forma funcional por el grupo dirigido por Manuel Palacín, líder del laboratorio de Transportadores de Aminoácidos y Enfermedad.


El artículo publicado en la reviste eLife permitirá la identificación de individuos susceptibles de desarrollar sordera asociada a la edad por mutaciones en el gen SLC7A8. En el futuro, habría que potenciar el cribado genético de este gen en otros individuos afectados para poder identificar la prevalencia de estas mutaciones en una población mucho más amplia, revelan los expertos.


Artículo de referencia: Espino Gaurch, M.; Font-Llitjós, M.; Murillo-Cuesta, S.; Errasti-Murugarren, E.; Celaya, A. M.; Girotto, G.; Vuckovic, D.; Mezzavilla, M.; Vilches, C.; Bodoy, S.; Sahún, I.; González, L.; Prat, E.; Zorzano, A.; Dierssen, M.; Varela-Nieto, I.; Gasparini, P.; Palacín, M.; Nunes, V. «Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss». eLife, enero de 2018.  DOI: 10.7554/eLife.31511.001
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