El gen LMO1 aumenta el riesgo de aparición de neuroblastoma

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Un equipo de investigadores del Hospital Infantil de Filadelfia, en Estados Unidos, ha descubierto que polimorfismos en el locus LMO1 están fuertemente asociados con una susceptibilidad a desarrollar neuroblastoma. Según señalan hoy en Nature, este gen podría tener relación con nuevas mutaciones ligadas a la progresión de la enfermedad.

John Maris es el autor principal del trabajo, que se ha basado en la genómica integrativa para demostrar que esta región genómica está especialmente relacionada con la aparición de mutaciones somáticas, estrechamente vinculadas con el desarrollo del cáncer. Los autores sugieren que en tumores infantiles como el neuroblastoma, los estudios de amplia asociación genómica deben dirigirse específicamente a la identificación de nuevas dianas terapéuticas y de biomarcadores de agresividad.

La investigación, en la que se ha trabajado sobre 2.251 pacientes y más de 6.000 controles, ha localizado el dominio 11p15.4 (rs110419) como el causante del mayor riesgo. El gen LMO1 codifica un regulador transcripcional rico en cisteína, mientras que sus parálogos (LMO2, LMO3 y LMO4) ya se habían implicado anteriormente en procesos tumorales.

Gen aberrante
De forma paralela, se han llevado a cabo análisis genómicos de alteraciones en el número de copias de ADN en 701 tumores primarios. Los resultados van en consonancia con lo anteriormente demostrado: el locus LMO1 resulta aberrante en el 12,4 por ciento de los cánceres debido a un proceso de duplicación que se relaciona con enfermedad más avanzada. Además, los alelos de riesgo en SNP de líneas germinales y las ganancias somáticas en el número de copias se asocian con un aumento en la expresión de LMO1 en líneas celulares de neuroblastoma y en tumores primarios, de manera que el papel de la tumorigénesis queda claramente potenciado. 
(Nature 2010; DOI: 10. 1038/nature09609). 

Fuente: www.diariomedico.com

89 Responses to “El gen LMO1 aumenta el riesgo de aparición de neuroblastoma”

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