Leiomodin 2 Neonatal Dilated Cardiomyopathy Mutation Results in Altered Actin Gene Signatures and Cardiomyocyte Dysfunction

Using patient-specific human induced pluripotent stem cell-derived cardiomyocytes and a mouse model harboring the homologous mutation to the patient, researchers discovered dysregulated actin-thin filament lengths, altered contractility and calcium handling properties, as well as alterations in the serum response factor-dependent signaling pathway.