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Role of RAF1/SHOC2 in cardiomyopathy

RAS-MAPK pathway plays a crucial role in the structural and functional development of myocardium. Gene mutations in RAS-MAPK pathway members leading to its aberrant signaling are a major cause of childhood-onset cardiomyopathies in syndromic (RASopathies) or non-syndromic patients. Recently, we discovered novel missense RAF1/SHOC2 variants associated cardiomyopathy. In addition, we also observed novel compounds RAF1 and SHOC2 mutations in a patient with a new syndrome with cardiomyopathy (termed as cardio-skeletal- cutaneous syndrome). We are exploring the molecular mechanisms of these mutants including the pathway-specific interplay between RAF1/SHOC2 and sarcomeric proteins using cellular, Drosophila and mouse models. We are also looking at epigenome modulations of these genes.