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Se trata del gen GATA4, el segundo que se ha identificado como causa aislada de enfermedad cardíaca congénita no asociada a síndromes identificados médicamente.
Mutaciones en el GATA4 se relacionan con defectos del septum cardíaco, es decir, formación defectuosa de las paredes que separan las cuatro cámaras del corazón.
Los autores consideran que el descubrimiento puede ayudar a los médicos a prevenir defectos cardíacos congénitos.
Para la investigación se examinó a dos grandes familias, una en Dallas que en cinco generaciones incluyó a 16 miembros con defectos cardíacos congénitos, y una de Tokio con ocho miembros afectados en cuatro generaciones.
Los análisis genéticos realizados permitieron identificar el citado gen, que se encontraba mutado en todos los miembros de esas familias con enfermedad cardíaca pero en ninguno de los que no presentaban estos trastornos ni en un grupo de 3.000 individuos no emparentadas con tales familias.
Webs Relacionadas
The University of Texas Southwestern Medical Center
http://www3.utsouthwestern.edu/
Nature
http://www.nature.com/