Molecular basis of cardiomyocyte maturation: Implications for congenital heart disease and cardiomyopathy.
Ventricular trabeculae are muscular structures found on the inner surfaces of the heart's ventricles. They develop during embryonic stages and have complex branching patterns. These structures provide support within the ventricles and regulate embryonic blood flow and heart function. While their exact role in adulthood remains unclear, recent research suggests that the shape and structure of ventricular trabeculae can impact cardiac performance and the risk of cardiovascular disease. A study utilizing the UK Biobank has identified a connection between trabecular morphology and cardiovascular disease risk. This study associated 16 genetic locations with blood flow traits and cytoskeleton structure (1).
We have found that the expression of many of these genes is sensitive to the activity of the NRG1-ERBB2/4 pathway (Grego-Bessa submitted). Considering the shared developmental origin of trabecular cardiomyocytes and the ventricular conduction system, we propose that variations affecting trabecular formation could contribute to ventricular conduction system disorders in humans. We will: (1) conduct genomic analysis on specific cardiomyopathy pedigrees to determine the direct involvement of these genes in human disease; (2) to establish the function of these genes in vivo, we will study the corresponding mouse models and perform multi-level phenotyping.
(1) H. V. Meyer et al. (2020) “Genetic and functional insights into the fractal structure of the heart”, Nature, 584, 589-594.
José Luis de la Pompa Mínguez.
Correo electrónico: jlpompa@cnic.es.
Facultad de Medicina. Universidad Autónoma de Madrid. Calle del Arzobispo Morcillo 4. 28029 Madrid. Tel.: +34 914 975 486. Correo electrónico: informacion.medicina@uam.es
