Esclerosis Tuberosa: patogénesis molecular y modelos animales

Leandro Piedimonte

doi:10.47924/neurotarget2006440

Autores/as

Leandro Piedimonte Centro médico de la Universidad de Nueva York Nueva York, EE. UU.

DOI:

https://doi.org/10.47924/neurotarget2006440

Resumen

Mutaciones en uno de dos genes, TSC1 o TSC2, dan como resultado una enfermedad de similar fenotipo al interrumpir la interacción normal de sus productos proteicos, hamartina y tuberina, los cuales forman un complejo funcional de señales intracelulares. La disrupción de estos genes en el cerebro da resultado a diferenciación, proliferación, y migración celular anormal, dando origen a las lesiones cerebrales características del complejo de esclerosis tuberosa llamadas, tuberosidades corticales. Las complicaciones más devastadoras del complejo de la esclerosis tuberosa afectan al sistema nervioso central e incluyen epilepsia, retardo mental, autismo, y tumores gliales. Modelos animales relevantes, como los ratones knocked out son herramientas valiosas para el estudio de las funciones normales de la hamartina y la tuberina y de cómo la disrupción de su expresión da origen a la variedad de rasgos clínicos que caracterizan al complejo de esclerosis tuberosa. En el futuro, estos animales van a ser modelos preclínicos muy valiosos para el desarrollo de tratamientos altamente específicos y eficaces para los chicos afectados con el complejo de esclerosis tuberosa.

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