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Una mutación en APP protege contra la enfermedad de Alzheimer y el deterioro cognitivo relacionado con la edad
Thorlakur Jonsson1, Jasvinder K Atwal, Stacy Steinberg
1deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.
Nature
|July 18, 2012
Resumen
Se descubrió que una mutación genética específica, A673T en el gen de la proteína precursora de beta amiloide (APP), protege contra la enfermedad de Alzheimer. Este descubrimiento ofrece un nuevo objetivo terapéutico para reducir el deterioro cognitivo.
Área de la Ciencia:
- La neurociencia es la neurociencia.
- Genética La genética.
- La bioquímica es la bioquímica.
Sus antecedentes:
- La demencia afecta a más del 5% de las personas mayores de 60 años en los países occidentales, y la enfermedad de Alzheimer representa dos tercios de los casos.
- La prevalencia de la enfermedad de Alzheimer aumenta significativamente con la edad, casi duplicándose cada cinco años después de los 65 años.
- La identificación de los factores genéticos que influyen en el riesgo de enfermedad de Alzheimer es crucial para el desarrollo de intervenciones efectivas.
Objetivo del estudio:
- Investigar las variantes de codificación de baja frecuencia en el gen de la proteína precursora de beta amiloide (APP) para su impacto en el riesgo de enfermedad de Alzheimer.
- Para identificar mutaciones específicas dentro del gen APP que pueden conferir protección contra la enfermedad de Alzheimer.
Principales métodos:
- Se realizó la secuenciación del genoma completo de 1.795 individuos islandeses para analizar las variantes de codificación en el gen APP.
- Se realizaron experimentos in vitro para evaluar el impacto funcional de las mutaciones identificadas en la formación de péptidos amiloidogénicos.
Principales resultados:
- Se identificó una mutación codificante específica, A673T, en el gen APP.
- La mutación A673T demostró un efecto protector significativo contra la enfermedad de Alzheimer y el deterioro cognitivo relacionado con la edad.
- Los estudios in vitro mostraron que A673T reduce la formación de péptidos amiloidogénicos en aproximadamente un 40%.
Conclusiones:
- La mutación A673T proporciona una fuerte evidencia de que la reducción de la división beta de APP puede proteger contra la enfermedad de Alzheimer.
- El mecanismo de protección de A673T contra la enfermedad de Alzheimer y el deterioro cognitivo general puede implicar vías similares.
- Este hallazgo apoya el desarrollo de estrategias terapéuticas dirigidas al procesamiento de APP para la prevención y el tratamiento de la enfermedad de Alzheimer.
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