Estudiaron el ADN de 11 miembros de una familia de Dallas, tanto niños como adultos, afectados de cardiopatía aórtica. Ello condujo a la identificación de la mutación en un gen conocido como NOTCH1.
La mutación provoca un defecto temprano del desarrollo de la válvula aórtica, algo que fue comprobado posteriormente al encontrar una segunda mutación en el mismo gen en otra familia de San Diego.
Se estima que entre el 1 y el 2% de la población nace con defectos en la válvula aórtica que provocan susceptibilidad de estenosis. La enfermedad requiere cirugía al poco de nacer.
Los autores señalan que el nuevo descubrimiento puede ayudar a identificar personas con riesgo de desarrollar este problema. Asimismo, cuando se conozca el verdadero impacto de la mutación podría dar lugar al desarrollo de nuevos tratamientos.
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University of Texas Southwestern Medical Center
Nature
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