Michael Radke, Vita Dauksatie, Thirupugal Govindarajan, Martin Liss, Florian Hinze, Katrina Meyer, Meghna Thakkar
Alternative splicing is a process that determines which exons are included in the mature RNA and accounts for the majority of transcriptomic diversity. It is tightly regulated to accommodate the needs of the developing and aging organism in a changing environment. Only recently has the role of alternative splicing in disease been appreciated. While defects in splice factors (trans-effects) are rare, mutations in splice sites within disease genes (cis-effects) account for up to 30% of inherited disease.
Our goal is to investigate the concerted regulation of cardiac alternative splicing in development and disease and to evaluate if splice directed therapy can be used to improve diastolic function and specifically the elastic properties of the heart.