{"id":426077,"date":"2022-05-25T07:39:27","date_gmt":"2022-05-25T07:39:27","guid":{"rendered":"https:\/\/kinsta.unitedwithisrael.org\/?p=426077"},"modified":"2022-05-25T10:40:14","modified_gmt":"2022-05-25T07:40:14","slug":"avance-cientifico-en-la-universidad-de-tel-aviv","status":"publish","type":"post","link":"https:\/\/kinsta.unitedwithisrael.org\/es\/avance-cientifico-en-la-universidad-de-tel-aviv\/","title":{"rendered":"Avance cient\u00edfico en la Universidad de Tel Aviv"},"content":{"rendered":"

Los investigadores descubrieron un mecanismo compartido por mutaciones en diferentes genes asociados con el autismo, la esquizofrenia y otras afecciones.<\/em><\/strong><\/p>\n

(Comunicado de la portavoz de la Universidad de Tel Aviv)<\/p>\n

Investigadores de la Universidad de Tel Aviv, dirigidos por la Prof. Ilana Gozes, del Departamento de Gen\u00e9tica Molecular Humana y Bioqu\u00edmica, de la Facultad de Medicina Sackler y la Escuela de Neurociencia Sagol, han descubierto un mecanismo compartido por mutaciones en los genes ADNP y SHANK3, que causan autismo, esquizofrenia y otras afecciones. Los investigadores, tambi\u00e9n descubrieron que una droga experimental previamente desarrollada en el laboratorio de la Profesora Gozes es efectiva en modelos de laboratorio para estas mutaciones y tal vez, sea apropiada para el tratamiento de una gama de s\u00edndromes raros que deterioran las funciones cerebrales.<\/p>\n

Seg\u00fan los investigadores, los resultados alentadores podr\u00edan conducir a tratamientos eficaces para una serie de s\u00edndromes raros que deterioran las funciones cerebrales y causan autismo, esquizofrenia y enfermedades neurodegenerativas como el Alzheimer.<\/p>\n

En el estudio, participaron: la Dra. Yanina Ivashko-Pachima, Maram Ganaiem, Inbar Ben-Horin-Hazak, Alexandra Lobyntseva, Naomi Bellaiche, Inbar Fischer, Gilad Levy, el Dr. Shlomo Sragovich, el Dr. Gidon Karmon y el Dr. Eliezer Giladi de la Facultad de Medicina Sackler y la Escuela de Neurociencia Sagol, de la Universidad de Tel Aviv, el Dr. Boaz Barak de la Escuela de Ciencias Psicol\u00f3gicas, Gershon H. Gordon, de la Facultad de Ciencias Sociales y la Escuela de Neurociencia Sagol, de la Universidad de Tel Aviv, y la Dra. Shula Shazman del Departamento de Matem\u00e1ticas y Ciencias de la Computaci\u00f3n, de la Universidad Abierta.<\/p>\n

El trabajo fue publicado en la revista cient\u00edfica Molecular Psychiatry.<\/p>\n

La profesora Gozes, se\u00f1ala:\u201d Algunos casos de autismo son causados por mutaciones en varios genes. Actualmente sabemos acerca de m\u00e1s de 100 s\u00edndromes gen\u00e9ticos asociados con el autismo, 10 de los cuales son considerados relativamente comunes (aunque siguen siendo extremadamente raros). En nuestro laboratorio, nos focalizamos principalmente en uno de ellos, el s\u00edndrome ADNP, causado por mutaciones en el gen ADNP, que alteran la funci\u00f3n de la prote\u00edna ADNP, conduciendo a defectos estructurales en el esqueleto de las neuronas del cerebro. En el estudio actual, hemos identificado un mecanismo espec\u00edfico que causa este da\u00f1o en las mutaciones de dos genes diferentes: ADNP y SHANK3-un gen asociado con el autismo y la esquizofrenia. Seg\u00fan las estimaciones, estas dos mutaciones son las responsables de miles de casos de autismo en todo el mundo\u201d.<\/p>\n

Para comenzar, los investigadores obtuvieron c\u00e9lulas de pacientes con el s\u00edndrome ADNP. Descubrieron que cuando la prote\u00edna ADNP es defectuosa, las neuronas se forman con esqueletos defectuosos (microt\u00fabulos), deteriorando las funciones cerebrales. Tambi\u00e9n hallaron, sin embargo, que las mutaciones del ADNP adoptan diferentes formas, algunas de las cuales causan menos da\u00f1os.<\/p>\n

La profesora Gozes, que es tambi\u00e9n la Directora del Centro de Estudios Cerebrales Adams, de la Universidad Tel Aviv, explica: \u201cHemos descubierto que en algunas mutaciones, una secci\u00f3n agregada a la prote\u00edna la protege y reduce el da\u00f1o al conectarse con un sitio de control del sistema esquel\u00e9tico dela neurona. Sabemos que este mismo sitio de control es hallado en SHANK3-una prote\u00edna muy estudiada, con mutaciones que est\u00e1n asociadas con el autismo y la esquizofrenia. Hemos llegado a la conclusi\u00f3n, de que la capacidad de unirse al SHANK3 y a otras prote\u00ednas similares brinda cierta protecci\u00f3n contra los efectos perjudiciales de la mutaci\u00f3n\u201d.<\/p>\n

En la siguiente fase del estudio, los investigadores descubrieron sitios adicionales en la prote\u00edna ADNP que se pueden unir al SHANK3 y a prote\u00ednas similares. Uno de estos sitios est\u00e1 localizado en NAP, una secci\u00f3n de ADNP que fue desarrollada dentro de un f\u00e1rmaco experimental (Davunetide) por el laboratorio de la profesora Gozes.<\/p>\n

Adem\u00e1s, los investigadores demostraron que el tratamiento prolongado con Davunetide, mejoraba significativamente la conducta de los animales modelo con autismo causado por el SHANK3.<\/p>\n

La profesora Gozes, concluye diciendo: \u201cEn los estudios anteriores demostramos que el Davunetide es eficaz para el tratamiento de modelos del s\u00edndrome ADNP. El nuevo estudio nos ha llevado a creer que tambi\u00e9n podr\u00eda ser eficaz en el caso del s\u00edndrome Phelan McDermid, causado por una mutaci\u00f3n en el gen SHANK3, as\u00ed como en otros s\u00edndromes que causan autismo a trav\u00e9s del mismo mecanismo\u201d.<\/p>\n

El f\u00e1rmaco experimental Davunetide fue reconocido por la FDA como un medicamento pedi\u00e1trico hu\u00e9rfano y singular, para el futuro tratamiento del desarrollo del s\u00edndrome ADNP y est\u00e1 protegido por patentes a trav\u00e9s de Ramot, la empresa de transferencia de tecnolog\u00eda de la Universidad de Tel Aviv y con licencia exclusiva para ATED Therapeutics Ltd.<\/p>\n

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