Dysregulated expression of Ankyrin repeat domain 1 in the developing myocardium causes anomalous venous return and morphogenetic defects by impairing cardiac remodelling

Introduction: Total anomalous pulmonary venous return (TAPVR) is a severe congenital heart disease characterized by failure of pulmonary veins to connect exclusively to the left atrium. Cardiac Ankyrin Repeat Protein (CARP), encoded by the Ankyrin repeat domain 1 (Ankrd1) gene, is a mechanosensor protein, involved in physiological and pathological remodelling of myocardium. Recently, we have identified Ankrd1 as a candidate gene for TAPVR in isolated patients. Our reported TAPVR patients presented either increased Ankrd1 transcript levels or a missense T116M mutation, resulting in greater protein stability.
Source: Nutrition, Metabolism, and Cardiovascular Diseases : NMCD - Category: Nutrition Authors: Source Type: research