RESUMO
[Figure: see text].
Assuntos
Doença da Artéria Coronariana/genética , Variação Genética , Receptores Depuradores Classe B/genética , Adulto , Idade de Início , Animais , Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/epidemiologia , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Células HEK293 , Células Hep G2 , Hepatócitos/metabolismo , Hereditariedade , Heterozigoto , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo , Masculino , Camundongos Endogâmicos C57BL , Pessoa de Meia-Idade , Linhagem , Fenótipo , Medição de Risco , Fatores de Risco , Receptores Depuradores Classe B/metabolismo , Índice de Gravidade de Doença , Sequenciamento do ExomaRESUMO
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.