Identifican una variante genética ligada a predisposición al Parkinson y a la demencia asociada a esta patología

La variante genética MAPT-H1 está asociada con un mayor riesgo de padecer la enfermedad de Parkinson, así como con mayor probabilidad de desarrollar demencia ligada a esta patología neurodegenerativa, según se desprende de los resultados preliminares de un estudio realizado por Jordi Clarimon y Núria Setó, del grupo de investigación sobre neurogenética en el Instituto de Investigación del Hospital de San Pablo, en Barcelona.

Los portadores de esa variante y, en especial aquéllos con el subhaplotipo H1p, tuvieron hasta cuatro veces más riesgo de desarrollar demencia a lo largo de la enfermedad que aquéllos que carecían de este alelo.

El gen MAPT es el que codifica la proteína TAU, responsable de la agregación de las fibrillas en la enfermedad de Alzheimer, y también se había asociado previamente al Parkinson, pero hasta ahora se desconocía que era un marcador de riesgo de desarrollar demencia en esta patología.

La relación entre la variante MAPT-H1 y el riesgo de padecer Alzheimer ya ha sido objeto de estudio de otros grupos de investigación, aunque se ha llegado a conclusiones en ambas direcciones, por lo que todavía existe polémica al respeto.

El gen MAPT es el que codifica la proteína TAU, responsable de la agregación de las fibrillas en la enfermedad de Alzheimer, y también se había asociado previamente al Parkinson, pero hasta ahora se desconocía que era un marcador de riesgo de desarrollar demencia en esta patología.

La relación entre la variante MAPT-H1 y el riesgo de padecer Alzheimer ya ha sido objeto de estudio de otros grupos de investigación, aunque se ha llegado a conclusiones en ambas direcciones, por lo que todavía existe polémica al respeto.Estos científicos, en colaboración con Jaime Kulisevsky, jefe clínico de la Unidad de Trastornos del Movimiento del Servicio de Neurología del Hospital de San Pablo, además se incluyeron 164 pacientes con Alzheimer y sus resultados descartan dicha asociación en la cohorte.

Otra de las patologías que se engloban dentro de las sinucleinopatías y que ha sido materia de estudio en este trabajo es la demencia con cuerpos de Lewy, cuya diferencia diagnóstica con el Parkinson asociado a demencia actualmente se basa en criterios clínicos que “se pueden considerar arbitrarios”, a juicio de Clarimon, ya que se fundamentan principalmente en la diferencia de tiempo que transcurre entre la aparición de los trastornos motores y los cognitivos.

Otra de las patologías que se engloban dentro de las sinucleinopatías y que ha sido materia de estudio en este trabajo es la demencia con cuerpos de Lewy, cuya diferencia diagnóstica con el Parkinson asociado a demencia actualmente se basa en criterios clínicos que “se pueden considerar arbitrarios”, a juicio de Clarimon, ya que se fundamentan principalmente en la diferencia de tiempo que transcurre entre la aparición de los trastornos motores y los cognitivos.

Incremento progresivo

Los pacientes con Parkinson tienen entre cuatro y seis veces más riesgo de desarrollar demencia que la población general. La probabilidad de esta comorbilidad se sitúa en el 30 por ciento de estos enfermos, pero se sabe que el riesgo se incrementa paralelamente al tiempo de evolución de la enfermedad hasta llegar a un 80 por ciento a los veinte años tras el diagnóstico. Los hallazgos del grupo de investigación que dirige Jordi Clarimon aportan un potencial marcador que podría incidir en el seguimiento y manejo del paciente, pero que será de especial utilidad para el diseño de nuevos ensayos clínicos vinculados al tratamiento del deterioro cognitivo asociado al Parkinson.

Fuente: www.diariomedico.com

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