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La mutación de la desmina es responsable de la cardiomiopatía dilatada idiopática
1Section of Cardiology, Molecular Biology Computational Resource, Baylor College of Medicine, Houston, TX, USA.
Circulation
|August 3, 1999
Resumen
Una nueva mutación del gen desmin, Ile451Met, causa cardiomiopatía dilatada familiar (FDCM) sin problemas esqueléticos. Este hallazgo pone de relieve la cola desmin.
Área de la Ciencia:
- Genética y Biología Molecular.
- Cardiología Cardiología.
- La bioquímica es la bioquímica.
Sus antecedentes:
- La cardiomiopatía dilatada familiar (FDCM) representa el 20% de los casos de cardiomiopatía dilatada idiopática, lo que lleva a la insuficiencia cardíaca y las necesidades de trasplante.
- Investigaciones previas mapearon seis loci FDCM autosómicamente dominantes, pero los genes causantes permanecieron elusivos hasta que se identificó la actina.
- Desmin, un filamento intermedio específico del músculo, está implicado en el crecimiento y desarrollo cardíaco, por lo que es un gen candidato para FDCM.
Objetivo del estudio:
- Investigar si los defectos del gen desmin causan miocardiopatía dilatada familiar (MDCF).
- Identificar la mutación genética específica responsable de la FDCM en las familias afectadas.
Principales métodos:
- Evaluación clínica y análisis de ADN de 44 sondas con FDCM.
- La ecocardiografía se utiliza para diagnosticar la cardiomiopatía dilatada basada en las dimensiones ventriculares y la fracción de eyección.
- Secuenciación de los exones del gen desmina después de la amplificación de la reacción en cadena de la polimerasa.
Principales resultados:
- Se identificó una nueva mutación de desmin, Ile451Met, en una familia de 4 generaciones con FDCM.
- Esta mutación se co-segregó con FDCM y no se presentó con anormalidades del músculo esquelético clínicamente evidentes.
- La mutación Ile451Met estuvo ausente en 460 individuos sanos no relacionados, confirmando su asociación con FDCM.
Conclusiones:
- La nueva mutación desmin Ile451Met es la causa genética de la cardiomiopatía dilatada idiopática en la familia estudiada.
- Esta es la primera mutación encontrada en el dominio de la cola desmin, lo que sugiere su papel crítico en la función cardíaca.
- El fenotipo cardíaco restringido asociado con esta mutación implica que la cola desmin es crucial para la función del tejido cardíaco.
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