Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis

Conclusions</div>Almost 2% of ARVD/C patients harbour rare <span style="font-style:italic;">SCN5A</span> variants. For one of these variants, we demonstrated reduced sodium current, Na<sub>v</sub>1.5 and N-Cadherin clusters at junctional sites. This suggests that Na<sub>v</sub>1.5 is in a functional complex with adhesion molecules, and reveals potential non-canonical mechanisms by which Na<sub>v</sub>1.5 dysfunction causes cardiomyopathy.</span>
Source: Cardiovascular Research - Category: Cardiology Source Type: research