Dilated cardiomyopathy (DCM) is a progressive cardiac disease characterized by reduced contractility and dilatation of heart. In a third of the cases the disease is genetic. The second most common gene affected is LMNA encoding nuclear lamins A and C. Lamins are filament proteins that determine size and shape of the cell nucleus and contribute many essential cell functions such as regulation of gene expression. However, it is currently unknown how mutations in lamins eventually lead to DCM. In this project we model cellular and molecular alterations caused by mutant lamin A/C in human stem cell derived cardiac cells and in an experimental mouse model mimicking human disease. The ultimate goal is to identify potential drug targets to develop new therapies for this progressive and devastating disease.

2021

2025