{"title":"KCNQI P535T突变对心脏心室细胞影响的芯片研究","authors":"Helan Satish, Ramasubba Reddy","doi":"10.1109/IECBES54088.2022.10079281","DOIUrl":null,"url":null,"abstract":"Sudden death is mostly due to cardiac diseases such as arrhythmia. In general, arrhythmia is caused due to mutation in certain genes (inherited), damage to tissues or exposure to certain drugs (induced). P535T is a mutation whose clinical significance is not known yet. Therefore, this study aims to perform a simulation study on P535T mutation in the KCNQI gene of the potassium ion channel KV7.1 in the cardiac ventricular epicardial (epi) and mid myocardial (M) cell. This paper addresses the effect of P535T mutation on an epi and M cell for three conditions (wild type, heterozygous and homozygous) of cells. A comparison of slow delayed rectifier potassium current (IKs) has been conducted. The effect of P535T mutation on the action potential (AP) of the epi and M cell is also studied. Results show the existence of delayed repolarization in the ventricular epicardial and the M cells. This may lead to Long QT Syndrome (LQTS) which could result in life-threatening arrhythmias such as Torsade de Pointes (TdP), Jervell and Lange-Nielsen syndrome (JLNS) and Romano-Ward syndrome (RWS).","PeriodicalId":146681,"journal":{"name":"2022 IEEE-EMBS Conference on Biomedical Engineering and Sciences (IECBES)","volume":"2 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2022-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"An In-Silico Study on Effect of KCNQI P535T Mutation in Cardiac Ventricular Cells\",\"authors\":\"Helan Satish, Ramasubba Reddy\",\"doi\":\"10.1109/IECBES54088.2022.10079281\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Sudden death is mostly due to cardiac diseases such as arrhythmia. In general, arrhythmia is caused due to mutation in certain genes (inherited), damage to tissues or exposure to certain drugs (induced). P535T is a mutation whose clinical significance is not known yet. Therefore, this study aims to perform a simulation study on P535T mutation in the KCNQI gene of the potassium ion channel KV7.1 in the cardiac ventricular epicardial (epi) and mid myocardial (M) cell. This paper addresses the effect of P535T mutation on an epi and M cell for three conditions (wild type, heterozygous and homozygous) of cells. A comparison of slow delayed rectifier potassium current (IKs) has been conducted. The effect of P535T mutation on the action potential (AP) of the epi and M cell is also studied. Results show the existence of delayed repolarization in the ventricular epicardial and the M cells. This may lead to Long QT Syndrome (LQTS) which could result in life-threatening arrhythmias such as Torsade de Pointes (TdP), Jervell and Lange-Nielsen syndrome (JLNS) and Romano-Ward syndrome (RWS).\",\"PeriodicalId\":146681,\"journal\":{\"name\":\"2022 IEEE-EMBS Conference on Biomedical Engineering and Sciences (IECBES)\",\"volume\":\"2 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-12-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"2022 IEEE-EMBS Conference on Biomedical Engineering and Sciences (IECBES)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1109/IECBES54088.2022.10079281\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"2022 IEEE-EMBS Conference on Biomedical Engineering and Sciences (IECBES)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1109/IECBES54088.2022.10079281","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
摘要
猝死多由心律失常等心脏疾病引起。一般来说,心律失常是由于某些基因突变(遗传)、组织损伤或暴露于某些药物(诱导)引起的。P535T是一种临床意义尚不清楚的突变。因此,本研究拟对心室心外膜(epi)和中心肌(M)细胞钾离子通道KV7.1的KCNQI基因P535T突变进行模拟研究。本文研究了P535T突变对epi和M细胞在三种条件下(野生型、杂合型和纯合型)的影响。对慢延迟整流器钾电流(IKs)进行了比较。研究了P535T突变对epi和M细胞动作电位(AP)的影响。结果显示心室心外膜和M细胞存在延迟复极现象。这可能导致长QT综合征(LQTS),从而导致危及生命的心律失常,如Torsade de Pointes (TdP), Jervell和llang - nielsen综合征(JLNS)和Romano-Ward综合征(RWS)。
An In-Silico Study on Effect of KCNQI P535T Mutation in Cardiac Ventricular Cells
Sudden death is mostly due to cardiac diseases such as arrhythmia. In general, arrhythmia is caused due to mutation in certain genes (inherited), damage to tissues or exposure to certain drugs (induced). P535T is a mutation whose clinical significance is not known yet. Therefore, this study aims to perform a simulation study on P535T mutation in the KCNQI gene of the potassium ion channel KV7.1 in the cardiac ventricular epicardial (epi) and mid myocardial (M) cell. This paper addresses the effect of P535T mutation on an epi and M cell for three conditions (wild type, heterozygous and homozygous) of cells. A comparison of slow delayed rectifier potassium current (IKs) has been conducted. The effect of P535T mutation on the action potential (AP) of the epi and M cell is also studied. Results show the existence of delayed repolarization in the ventricular epicardial and the M cells. This may lead to Long QT Syndrome (LQTS) which could result in life-threatening arrhythmias such as Torsade de Pointes (TdP), Jervell and Lange-Nielsen syndrome (JLNS) and Romano-Ward syndrome (RWS).