法医学研究ジャーナル

In silico Functional Analysis of Variants in Genes Associated with Sudden Cardiac Death in Cases of the National Institute of Legal Medicine of Colombia

Abstract

Joseph Alape Ariz, Andrea Pinzon Reyes, Arbey Hernan Medina Rocha, Rodrigo Cabrera Perez and Clara Isabel, Bermudez Santana

Diseases of cardiovascular origin such as cardiomiopathies and canalopatías are the main causes of sudden cardiac death and in some cases are difficult to diagnose during autoposy. We present an in silico analysis using bioinformatic tools, for the analysis of possibly pathogenic variants in genes associated with sudden cardiac death. Algorithms were used to predict pathogenicity, predicting the impact of SNPs on proteins, genomic specificity and protein-protein interaction. We found that variants in the KCNH2, ANK3, TTN, CAV3 and DSP genes cause structural alterations, molecular, cellular and interstitial changes in the heart that can trigger sudden death.