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El análisis de la secuencia de ARN revela la expansión somática macroscópica en los tejidos normales
Keren Yizhak1, François Aguet1, Jaegil Kim1
1Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Science (New York, N.Y.)
|June 8, 2019
Resumen
Las mutaciones somáticas y los clones macroscópicos son comunes en los tejidos humanos normales. Los factores ambientales, la edad y la división celular influyen en la acumulación de mutaciones, con implicaciones para el riesgo de enfermedad.
Área de la Ciencia:
- La genómica
- Biología celular
- Fisiología humana
Sus antecedentes:
- La acumulación de mutaciones somáticas en las células normales no se comprende bien.
- La comprensión de la expansión clonal en los tejidos normales es crucial para la etiología de la enfermedad.
Objetivo del estudio:
- Investigar la prevalencia y los patrones de las mutaciones somáticas en tejidos humanos normales.
- Identificar los factores que influyen en la acumulación de mutaciones somáticas y la expansión clonal.
Principales métodos:
- Análisis exhaustivo de los datos de secuenciación de ARN de aproximadamente 6700 muestras de 29 tejidos humanos normales.
- Cuantificación de las variantes somáticas y evaluación de la carga de mutación.
Principales resultados:
- Se identificaron múltiples variantes somáticas y clones macroscópicos en numerosos tejidos normales.
- La piel expuesta al sol, el esófago y el pulmón exhibieron mayores cargas de mutación, lo que sugiere influencias ambientales.
- La carga de mutación se correlacionó con la edad y las tasas de proliferación celular específicas del tejido.
- Los tejidos normales contenían mutaciones en genes de cáncer conocidos y puntos calientes.
Conclusiones:
- El mosaicismo somático está muy extendido en los tejidos humanos normales.
- Los factores ambientales, el envejecimiento y la proliferación celular son factores clave para la acumulación de mutaciones somáticas.
- Esta investigación proporciona una base para vincular la expansión clonal con el riesgo de enfermedad.
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