Error messageUser warning: The following theme is missing from the file system: flat_metro. For information about how to fix this, see the documentation page. in _drupal_trigger_error_with_delayed_logging() (line 1181 of /var/www/html/dhan/includes/bootstrap.inc).×
You are here
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.