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首页> 外文期刊>Circulation journal >PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative autopsy (SUDNA)
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PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative autopsy (SUDNA)

机译：因心律失常性右心室心肌病（ARVC）猝死和尸体阴性而突然猝死（SUDNA）的PKP2突变

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Background: Plakophilin2 (PKP2) is a desmosome-related protein with numerous armadillo repeats and has been linked to arrhythmogenic right ventricular cardiomyopathy (ARVC). Fatal arrhythmias resulting in sudden death also occur in the absence of morphologic cardiac abnormalities at autopsy, and have been linked to ion channel mutations in a subset of cases, but so far not to PKP2. Methods and Results: We sequenced all 14 exons of PKP2 in DNA extracted from postmortem heart tissues of 25 patients dying from ARVC and 25 from sudden unexpected death with negative autopsy (SUDNA). The primers were designed using the Primer Express 3.0 software. Direct sequencing for both sense and antisense strands was performed with a BigDye Terminator DNA sequencing kit on a 3130XL Genetic Analyzer. Mutation damage prediction was made using Mutation Taster, Polyphen and SIFT software. In 6 of the 25 ARVC samples, 6 PKP2 mutations were identified, 4 of which were likely significant, and 3 of which were novel (p.N641del, p.L64PfsX22, p.G269R). In 6 of the 25 cases of SUDNA samples, 6 PKP2 mutations were identified, 3 of which were likely significant, and 4 of which were not previously described (p.P665S, p.Y217TfsX45, p.E540, p.S615T). Conclusions: PKP2 mutations are not specific for ARVC and may result in SUDNA. The link between ARVC and desmosomal mutations may not be causal but related to an association between defective desmosomal proteins and arrhythmias.
机译：背景：Plakophilin2（PKP2）是一种与桥粒相关的蛋白，具有许多犰狳重复序列，并与致心律失常的右心室心肌病（ARVC）相关。在尸体解剖时不存在形态学异常的心脏时，也会导致致命性致命性心律失常，并且在部分病例中与离子通道突变有关，但到目前为止与PKP2无关。方法和结果：我们对25例死于ARVC的患者和25例因意外尸检和阴性尸检而死的心脏组织提取的DNA中PKP2的全部14个外显子进行了测序。使用Primer Express 3.0软件设计引物。在3130XL遗传分析仪上，使用BigDye Terminator DNA测序试剂盒对有义和反义链进行直接测序。使用Mutation Taster，Polyphen和SIFT软件进行突变损伤预测。在25个ARVC样本中的6个中，鉴定出6个PKP2突变，其中4个可能显着，而其中3个是新的（p.N641del，p.L64PfsX22，p.G269R）。在25例SUDNA样本中的6例中，鉴定出6个PKP2突变，其中3个可能显着，而以前未描述4个（p.P665S，p.Y217TfsX45，p.E540，p.S615T）。结论：PKP2突变不是ARVC特异的，可能导致SUDNA。 ARVC与桥粒突变之间的联系可能不是因果关系，而是与桥粒缺陷蛋白与心律不齐之间的关联有关。

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