RESUMEN
[Figure: see text].
Asunto(s)
Enfermedad de la Arteria Coronaria/genética , Variación Genética , Receptores Depuradores de Clase B/genética , Adulto , Edad de Inicio , Animales , Enfermedad de la Arteria Coronaria/diagnóstico , Enfermedad de la Arteria Coronaria/epidemiología , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Células HEK293 , Células Hep G2 , Hepatocitos/metabolismo , Herencia , Heterocigoto , Humanos , Células Madre Pluripotentes Inducidas/metabolismo , Masculino , Ratones Endogámicos C57BL , Persona de Mediana Edad , Linaje , Fenotipo , Medición de Riesgo , Factores de Riesgo , Receptores Depuradores de Clase B/metabolismo , Índice de Severidad de la Enfermedad , Secuenciación del ExomaRESUMEN
Ankyrin-B (encoded by ANK2), originally identified as a key cytoskeletal-associated protein in the brain, is highly expressed in the heart and plays critical roles in cardiac physiology and cell biology. In the heart, ankyrin-B plays key roles in the targeting and localization of key ion channels and transporters, structural proteins, and signaling molecules. The role of ankyrin-B in normal cardiac function is illustrated in animal models lacking ankyrin-B expression, which display significant electrical and structural phenotypes and life-threatening arrhythmias. Further, ankyrin-B dysfunction has been associated with cardiac phenotypes in humans (now referred to as "ankyrin-B syndrome") including sinus node dysfunction, heart rate variability, atrial fibrillation, conduction block, arrhythmogenic cardiomyopathy, structural remodeling, and sudden cardiac death. Here, we review the diverse roles of ankyrin-B in the vertebrate heart with a significant focus on ankyrin-B-linked cell- and molecular-pathways and disease.
