Myotonic dystrophy (DM) is a genetic disease caused by CTG sequence repeat expansion in the DMPK gene, resulting in toxic RNAs that cause loss of function of MBNL1 protein and subsequently cardiac dysfunction. MBNL1 is an RNA-binding protein that is localized in the nucleus and cytoplasm. It remains unclear how MBNL1 localization is affected in DM and how this affects heart function. In the Davis Lab, Akhila Bourampeta will test whether MBNL1 localization differs between healthy vs disease cardiomyocytes and how the CTG repeat length affects the protein distribution, using imaging and protein assays.
