A05: Role of the splice target CAMK2D in RBM20 cardiomyopathy

Mutations in RBM20 cause a clinically aggressive form of dilated cardiomyopathy. RBM20 is a splicing factor that targets multiple cardiac genes, such as TTN and CAMK2D. Preliminary data shows that CAMK2D mediates cardiac dysfunction in RBM20 cardiomyopathy. Therefore, we ask how CAMK2D mediates RBM20 cardiomyopathy. We found that Camk2d-dependent LMNA phosphorylation is increased in the hearts of Rbm20 knockout mice. Thus, we aim to elucidate the contribution of the CAMK2D-LMNA axis in RBM20 cardiomyopathy, and to identify antisense oligonucleotides (AONs) to knockdown specific Camk2d splice variants.