1121-Alternative Splicing in Cardiac Disease

Paper Talk · Jun 13, 2026 · 22m

This research identifies a novel transcription start site for the cardiac splicing regulator RBM20, which produces a shorter but functional protein isoform conserved across humans, mice, and rats. While the canonical isoform usually predominates, this alternative isoform lacks the first exon yet retains the ability to regulate alternative splicing for essential heart proteins like titin. The study demonstrates that the balance between these isoforms is strictly managed during cardiac development but becomes disrupted in different types of heart disease. Specifically, hypertrophic…