A pathogenic titin missense mutation in hiPSC-derived cardiomyocytes predisposes to ventricular fibrillation in acute ST-segment elevation myocardial infarction.

ABSTRACT:

Background

There is growing evidence that genetic factors may play a crucial role in the development of ventricular fibrillation (VF) following acute ST-segment elevation myocardial infarction (STEMI). Previous studies have demonstrated that both truncating and missense mutations in the TTN gene, which encodes a large cellular structural protein, are linked to arrhythmogenesis. However, the precise role of TTN mutations in the onset of primary VF after acute STEMI remains poorly understood.

Objectives

The primary objective of this study was to comprehensively determine the role and elucidate the electrophysiological mechanism of TTN missense mutations in VF development after acute STEMI. This was achieved by leveraging the unique capabilities of human-induced pluripotent ste

SUBMITTER: Ji YY 

PROVIDER: S-EPMC12808434 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature