The project is focus on a specific primary cardiomyopathy (CMP) caused by mutation of the nuclear lamina gene lamin A/C (LMNA), which will serve as a paradigm for studies on other cardiac pathologies. LMNA mutations cause a heterogeneous group of disorders, known as laminopathies, characterized by a spectrum of clinically distinct phenotypes including dilated CMP and arrhythmia, the molecular mechanisms of which still need clarification.
The project aim is to define the influence on LMNA of genomic variants in genes, the genotype–phenotype correlations and the role of epigenetics, and to develop new microfluidic platform to assess cardiomyocyte functionality in LMNA associated CMP and for the screening of the most effective drugs.