Variant Intronic Enhancer Controls < em > SCN10A-Short < /em > Expression and Heart Conduction

Conclusions: Genetic variants in and around SCN10A modulate enhancer function and expression of a cardiac-specific SCN10A-short transcript. We propose that non-coding genetic variation modulates transcriptional regulation of a functional C-terminal portion of NaV1.8 in cardiomyocytes that impacts on NaV1.5 function, cardiac conduction velocities and arrhythmia susceptibility.PMID:33910361 | DOI:10.1161/CIRCULATIONAHA.121.054083

Source: Circulation - April 29, 2021 Category: Cardiology Authors: Joyce C K Man Fernanda M Bosada Koen T Scholman Joost A Offerhaus Roddy Walsh Karel van Duijvenboden Vincent W W van Eif Connie R Bezzina Arie O Verkerk Bastiaan J Boukens Phil Barnett Vincent M Christoffels Source Type: research