Functional analysis of TTN uORFs reveals context-dependent translational regulation
28 August 2026 at 08:00
TTN truncating variants cause dilated cardiomyopathy and may be amenable to therapeutic upregulation. Disrupting TTN upstream open reading frames (uORFs) increased luciferase reporter expression, however disrupting endogenous uORFs in hiPSC-derived cardiomyocytes did not increase titin protein. This highlights the importance of validating regulatory mechanisms in disease-relevant cellular contexts.