Mutations in LMNA, encoding A-type lamins, cause at least two heritable diseases that affect the heart: dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy, which affects muscles and tendons in addition to causing life-threatening cardiomyopathy and cardiac conduction system defects.
I focused my researches on deciphering the molecular mechanisms causative of cardiac dysfunction in these clinical entities. My work provided proof of principle for MAP kinase inhibition as a therapeutic option to prevent or delay the onset of heart failure in cardiomyopathy caused by LMNA mutation. These preliminary findings were the foundation of my preclinical work. The trail blazed here opens the possibility that MAP kinase inhibitors could be used to treat lamin-related cardiomyopathies.