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Mutaciones genéticas inflamatorias somáticas en el epitelio de la colitis ulcerosa humana
Kosaku Nanki1,2, Masayuki Fujii1,3, Mariko Shimokawa1
1Department of Organoid Medicine, Keio University School of Medicine, Tokyo, Japan.
Nature
|December 20, 2019
Resumen
El envejecimiento de los tejidos acumula mutaciones cancerosas. En pacientes con colitis ulcerosa, las células del colon desarrollan mutaciones en los genes de señalización de IL-17, lo que potencialmente conduce a la inflamación y la enfermedad.
Área de la Ciencia:
- Gastroenterología
- La genética
- Inmunología
Sus antecedentes:
- Los tejidos envejecidos acumulan clones somáticos con mutaciones cancerosas.
- La expansión clonal en el intestino humano no neoplásico no se comprende bien.
- La colitis ulcerosa incluye inflamación intestinal crónica.
Objetivo del estudio:
- Investigar la mutagénesis somática en el epitelio del colon de pacientes con colitis ulcerosa.
- Determinar si las mutaciones en el colon inflamado confieren ventajas funcionales.
- Explorar el vínculo entre las mutaciones somáticas y la patogénesis de la colitis ulcerosa.
Principales métodos:
- Secuenciación de todo el exoma de 76 organoides de colon humano.
- Secuenciación dirigida para validar la propagación de la mutación.
- El cribado de nocaut basado en CRISPR en los organoides del colon.
Principales resultados:
- Identificó un patrón único de mutaciones somáticas en el epitelio del colon de la colitis ulcerosa.
- Se encontraron mutaciones en los genes de la vía de señalización de IL-17 (NFKBIZ, ZC3H12A, PIGR).
- Las mutaciones confirieron resistencia a la apoptosis inducida por IL-17A en los organoides del colon.
Conclusiones:
- La mutagénesis somática en el epitelio del colon humano está relacionada con la inflamación.
- Las mutaciones pueden promover la supervivencia en el microambiente hostil de la colitis ulcerosa.
- Esta adaptación genética podría contribuir a la patogénesis de la colitis ulcerosa.
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