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La mutación XRCC1 está asociada con la hiperactivación de PARP1 y la ataxia cerebelosa

Nicolas C Hoch1,2, Hana Hanzlikova1, Stuart L Rulten1

  • 1Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9RH, UK.

Nature
|December 22, 2016
PubMed
Resumen

Las mutaciones en el gen de reparación del ADN XRCC1 causan trastornos neurológicos como la ataxia. La inhibición de PARP1, una enzima involucrada en la reparación del ADN, rescató los síntomas neurológicos en ratones, lo que sugiere PARP1 como objetivo terapéutico.

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Área de la Ciencia:

  • La genética
  • La neurociencia
  • Biología molecular

Sus antecedentes:

  • El XRCC1 es crucial para la reparación de la ruptura de una sola cadena de ADN.
  • Los defectos en la reparación del ADN pueden conducir a una disfunción neurológica.
  • El papel de XRCC1 en la salud neurológica no se comprende completamente.

Objetivo del estudio:

  • Investigar el vínculo entre las mutaciones de XRCC1 y la enfermedad neurológica.
  • Elucidar los mecanismos moleculares subyacentes a la neuropatología asociada a XRCC1.
  • Identificar posibles objetivos terapéuticos para los trastornos neurológicos con defecto de reparación del ADN.

Principales métodos:

  • Se estudiaron pacientes con mutaciones bialélicas de XRCC1.
  • Se analizaron las tasas de reparación del ADN y la ribosilación de la proteína ADP en las células del paciente.
  • Se utilizó un modelo de ratón con deficiencia de Xrcc1.
  • Se investigó el efecto de la deleción de Parp1 en el modelo de ratón.

Principales resultados:

  • Las mutaciones bialélicas de XRCC1 están asociadas con apraxia motora ocular, neuropatía axonal y ataxia cerebelosa.
  • Las células con deficiencia de XRCC1 muestran deterioro de la reparación del ADN y aumento de la ribosilación de la proteína ADP.
  • La deleción genética de Parp1 normalizó los niveles de ADP-ribosa y redujo la pérdida neuronal y la ataxia en ratones con defecto Xrcc1.
  • Esto sugiere que la hiperactivación de las polimerasas ADP-ribosa (PARP) contribuye a la ataxia.

Conclusiones:

  • Los complejos de proteínas XRCC1 son esenciales para la función neurológica normal.
  • La actividad elevada de PARP1 debido a rupturas de cadenas de ADN contribuye a la neuropatología.
  • PARP1 es un objetivo terapéutico potencial para enfermedades relacionadas con defectos de reparación de la rotura de la cadena de ADN.