RÉSUMÉ
[Figure: see text].
Sujet(s)
Maladie des artères coronaires/génétique , Variation génétique , Récepteurs éboueurs de classe B/génétique , Adulte , Âge de début , Animaux , Maladie des artères coronaires/diagnostic , Maladie des artères coronaires/épidémiologie , Femelle , Études d'associations génétiques , Prédisposition génétique à une maladie , Cellules HEK293 , Cellules HepG2 , Hépatocytes/métabolisme , Hérédité , Hétérozygote , Humains , Cellules souches pluripotentes induites/métabolisme , Mâle , Souris de lignée C57BL , Adulte d'âge moyen , Pedigree , Phénotype , Appréciation des risques , Facteurs de risque , Récepteurs éboueurs de classe B/métabolisme , Indice de gravité de la maladie ,RÉSUMÉ
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.
