哥伦比亚国家法律医学研究所病例中与心源性猝死相关基因变异的计算机功能分析

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

心血管疾病,如心脏病和channelopathíes是心源性猝死的主要原因,在某些情况下很难在尸检中诊断。我们提出了一项使用生物信息学工具的计算机分析,用于分析与心源性猝死相关的基因中可能的致病变异。算法用于预测致病性,预测snp对蛋白质、基因组特异性和蛋白质-蛋白质相互作用的影响。我们发现KCNH2、ANK3、TTN、CAV3和DSP基因的变异会导致心脏的结构改变、分子、细胞和间质改变,从而引发猝死。
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In Silico Functional Analysis of Variants in Genes Associated with Sudden Cardiac Death in Cases of the National Institute of Legal Medicine of Colombia
: Diseases of cardiovascular origin such as cardiomiopathies and channelopathíes 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 andprotein-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.
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