Anastasia Karabina – Graduate Student
• Lab News
Familial Hypertrophic Cardiomyopathy (FHC) leads to a thickening of the heart’s ventricular wall, which disrupts the heart’s ability to pump blood. FHC is caused by genetic mutations in sarcomeric proteins. The clinical presentation and prognosis of FHC depends on the specific pathogenic mutation. My research utilizes in vitro motility assays to characterize the biochemical and mechanical properties of myosins bearing FHC mutations. By elucidating the underlying molecular defects that give rise to the mutant phenotype, potential therapeutic targets have been found. Currently I am testing whether phosphorylation of the myosin regulatory light chain can rescue the molecular pathophysiology of two genetic mutations that lead to FHC.
Ph.D Candidate, Biophysics