Identifican la causa común de todas las formas de esclerosis lateral amiotrófica

Cuando un médico va detrás del féretro de su paciente, a veces la causa sigue al efecto

       Robert Koch

Investigadores de la Northwestern University (Estados Unidos) sitúan la base de este trastorno en un fallo de reciclaje de las proteínas neuronales.      

Un estudio de la Northwestern University ha identificado una causa común para el desarrollo de todas las formas de esclerosis lateral amiotrófica (ELA o enfermedad de Lou Gehrig), una enfermedad neurodegenerativa que causa la paralisis de los pacientes. Hasta hoy, los investigadores ni siquiera sabían que todas sus formas convergen en un mismo proceso patológico.

La base de este trastorno es un fallo en el sistema de reciclaje de proteínas en las neuronas de la médula espinal y el cerebro. El óptimo funcionamiento de estas neuronas depende del reciclado eficiente de los bloques de construcción de proteínas en las células. En la ELA, el sistema de reciclaje falla y las células no pueden ser reparadas, por lo que acaban sufriendo daños severos.

“Estos conocimientos abren un nuevo campo para encontrar un tratamiento efectivo para la ELA”, afirma el autor principal del estudio, el doctor Teepu Siddique, neurólogo en la Northwestern University (Estados Unidos), “Ahora”, prosigue, podemos hacer pruebas con medicamentos que regulen esta vía de la proteína u optimizarla para que funcione como debería en un estado normal”.

Según Siddique, el descubrimiento del fallo en el reciclaje de proteínas también puede tener un papel en otras enfermedades neurodegenerativas, como en la enfermedad de Alzheimer, la demencia frontotemporal y la enfermedad de Parkinson, que se caracterizan por la agregación de proteínas. La eliminación de las proteínas dañadas es fundamental para el funcionamiento celular óptimo.

El fallo en el sistema de reciclaje tiene lugar en las tres formas de la ELA: la hereditaria (familiar), la no hereditaria (esporádica), y la ELA que afecta al cerebro (demencia-ELA). En una investigación relacionada, investigadores del Feinberg School también descubrieron una nueva mutación genética presente en la ELA familiar y la demencia-ELA, que une estas dos formas de la enfermedad.

La ALS afecta a alrededor de 350.000 personas en todo el mundo, incluidos niños y adultos, y un 50% de las personas afectadas mueren durante los tres primeros años desde su aparición. En la enfermedad motora, los pacientes pierden progresivamente la fuerza muscular hasta que no pueden moverse, hablar, tragar o respirar. La demencia-ELA afecta a los lóbulos frontal y temporal del cerebro, alterando el juicio de los pacientes, la capacidad de entender el lenguaje y la realización de tareas básicas (como elegir qué ropa ponerse o la organización del día).

Nature (2011); doi:10.1038/nature10353

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