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La repetición C9orf72 GGGGCC se traduce en proteínas agregadoras de repetición dipeptídica en FTLD/ALS
Kohji Mori1, Shih-Ming Weng, Thomas Arzberger
1Adolf Butenandt-Institute, Biochemistry, Ludwig-Maximilians University (LMU) Munich, Munich, Germany.
Science (New York, N.Y.)
|February 9, 2013
Resumen
La causa genética más común de la degeneración del lóbulo frontotemporal familiar y la ELA, la expansión repetida del hexanucleótido C9orf72, conduce a inclusiones de proteínas específicas. Estas inclusiones contienen proteínas de repetición dipeptídica, que vinculan directamente la mutación genética con la patología observada.
Área de la Ciencia:
- La neurociencia es la neurociencia.
- Genética La genética.
- Biología Molecular Biología Molecular
Sus antecedentes:
- La degeneración del lóbulo frontotemporal familiar y la esclerosis lateral amiotrófica (ALS) a menudo son causadas por expansiones repetidas del hexanucleótido C9orf72.
- Los patomecanismos subyacentes y la composición de las inclusiones de proteínas en la patología asociada con C9orf72 siguen siendo en gran medida desconocidos.
Objetivo del estudio:
- Para identificar las proteínas centrales dentro de las inclusiones intracelulares características que se encuentran en la patología C9orf72.
- Establecer un vínculo directo entre la mutación genética C9orf72 y los agregados patológicos de proteínas observados.
Principales métodos:
- Análisis de inclusiones intracelulares en muestras de pacientes con expansión repetida de hexanucleótido C9orf72.
- Identificación de los componentes de proteínas dentro de estas inclusiones utilizando técnicas proteómicas y bioquímicas.
Principales resultados:
- La mayoría de las inclusiones características contienen proteínas de repetición de dipeptidos poli- ((Gly-Ala).
- También se identificaron cantidades más pequeñas de poli- ((Gly-Pro) y poli- ((Gly-Arg) proteínas de repetición dipeptídica.
- Se presume que estas proteínas de repetición dipeptídica surgen de la traducción no iniciada por ATG de la repetición GGGGCC expandida.
Conclusiones:
- Este estudio identifica proteínas específicas de repetición dipeptídica como los componentes predominantes de las inclusiones en FTLD/ELA asociada a C9orf72.
- Los hallazgos proporcionan un vínculo molecular directo entre la mutación genética C9orf72 y las características patológicas clave observadas en los pacientes.
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