Journal of Forensic Research

Department of Forensic Pathology, Institute of Translational Medicine (IMT), Rosario University, Bogotá, Colombia

Publications

• Research   
  In silico Functional Analysis of Variants in Genes Associated with Sudden Cardiac Death in Cases of the National Institute of Legal Medicine of Colombia
  Author(s): Joseph Alape Ariza*, 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... Read More»
  DOI: 10.37421/2157-7145.2023.14.555

  Abstract HTML PDF