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首页> 外文期刊>Nature >Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
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Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.

机译：特发性室颤的遗传基础和分子机制。

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Ventricular fibrillation causes more than 300,000 sudden deaths each year in the USA alone. In approximately 5-12% of these cases, there are no demonstrable cardiac or non-cardiac causes to account for the episode, which is therefore classified as idiopathic ventricular fibrillation (IVF). A distinct group of IVF patients has been found to present with a characteristic electrocardiographic pattern. Because of the small size of most pedigrees and the high incidence of sudden death, however, molecular genetic studies of IVF have not yet been done. Because IVF causes cardiac rhythm disturbance, we investigated whether malfunction of ion channels could cause the disorder by studying mutations in the cardiac sodium channel gene SCN5A. We have now identified a missense mutation, a splice-donor mutation, and a frameshift mutation in the coding region of SCN5A in three IVF families. We show that sodium channels with the missense mutation recover from inactivation more rapidly than normal and that the frameshift mutation causes the sodium channel to be non-functional. Our results indicate that mutations in cardiac ion-channel genes contribute to the risk of developing IVF.
机译：仅在美国，每年的心室纤颤会导致300,000例猝死。在这些病例中约有5-12％，没有可证实的心脏或非心脏原因来解释发作，因此将其归为特发性心室颤动（IVF）。已发现一组不同的IVF患者表现出特征性的心电图模式。但是，由于大多数家系的规模较小且猝死的发生率很高，因此尚未进行IVF的分子遗传学研究。由于IVF会引起心律失常，因此我们通过研究心脏钠通道基因SCN5A的突变来研究离子通道的功能异常是否会导致该疾病。现在，我们在三个IVF家族的SCN5A编码区中发现了一个错义突变，一个剪接供体突变和一个移码突变。我们显示，具有错义突变的钠通道比​​正常状态更快地从失活中恢复，并且移码突变导致钠通道无功能。我们的结果表明，心脏离子通道基因的突变会导致发生IVF的风险。

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