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La doblecortina, un gen específico del cerebro mutado en la lisencefalia humana ligada al X y el síndrome de doble
J G Gleeson1, K M Allen, J W Fox
1Department of Neurology, Beth Israel Deaconess Medical Center, Boston, Massachusetts 02115, USA.
Cell
|March 7, 1998
Resumen
Los investigadores identificaron una nueva proteína, la doblecortina, vinculada a la lisencefalia ligada al X y a los trastornos cerebrales de la "doble corteza". Las mutaciones en el gen Doublecortin causan estas condiciones al interrumpir la migración neuronal.
Área de la Ciencia:
- La neurociencia es la neurociencia.
- Genética La genética.
- Biología Molecular Biología Molecular
Sus antecedentes:
- La lisencefalia ligada al X (XLIS) y la "corteza doble" son malformaciones cerebrales relacionadas.
- Estos trastornos se caracterizan por la detención de las neuronas migratorias de la corteza cerebral.
- Ambas condiciones corresponden a la región cromosómica Xq22.3-Xq23.
Objetivo del estudio:
- Para identificar el gen responsable de la lisencefalia ligada a X y la "corteza doble".
- Para caracterizar la función del gen identificado en el desarrollo neuronal.
Principales métodos:
- Cribado de pacientes con lisencefalia ligada al X para mutaciones genéticas.
- Identificación y caracterización de un nuevo ADNc específico del cerebro.
- Análisis de las mutaciones del gen Doublecortin en familias afectadas y casos esporádicos.
Principales resultados:
- Se identificó un nuevo ADNc específico del cerebro de 10 kb que codifica una proteína de 40 kDa, Doublecortin.
- La translocación equilibrada en un paciente con lisencefalia ligada a X interrumpió el gen Doublecortin.
- Se encontraron mutaciones independientes de Doublecortin en cuatro familias y tres casos esporádicos de "corteza doble" / lisencefalia vinculada a X.
- La doblecortina exhibe sitios potenciales de fosforilación y homología con las proteínas quinasas, lo que sugiere un papel en la transducción de señales.
Conclusiones:
- La doblecortina es una proteína clave involucrada en la migración neuronal.
- Las mutaciones en el gen Doublecortin causan lissencefalia ligada a X y "corteza doble".
- La doblecortina puede funcionar dentro de una vía dependiente de Abl que regula la migración neuronal, potencialmente involucrando a mDab1.
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