首先,我们认为长QT综合证是由于单基因突变引起的。结果表明有超过10-12种不同的基因与此相关。在这些基因中,3中主要基因与80%的临床病例相关。那三种基因突变有不同相关临床表现和治疗反应的表型。这些被命名为I型,II型和III型。I型钾离子通道突变是其主要特征,表现为运动诱导或情绪诱导晕厥或心源性死亡。这是β阻滞剂治疗的主要适应症。
International Circulation: Can we talk about your research on long QT syndrome?
《国际循环》:您认为长QT间期综合征未来的研究方向将是什么?
Prof. Masayasu Hiraoka: I am basically a physiologist. I think we should exam basic function of channels. It come out after 1990s that the gene mutations would cause long QT syndrome. So we did a mutation survey in these patients. If we find out those mutations, we then put them into mammal cell lines and record channel activities and membrane currents. Thus we can clarify what kind of molecular mechanism is responsible for dysfunction of channels. In future, we hope to find some kinds of approaches to treat these mutations, ,which is called rescue of mutation. So far, we are not able to do that, because there are so many different types of mutations. Now at the animal level and cellular level, we have certain drugs that can rescue the mutations. However, it is very difficult to predict whether these drugs will work in human. We need more researches from cellular experiments going to animal experiments and finally going to human study of treatment.
Masayasu Hiraoka教授:我其实主要是一名生理学家。1990年以后被证明基因突变引起长QT综合症。我认为我们应该观察离子通道的基础功能。所以我们对这些患者进行了突变调查。如果我们发现哪些突变,我们接着将发现运用于哺乳动物细胞株,同时记录离子通道活动和膜电流的情况。这样我们才能够阐明那种分子机制是对离子通道功能障碍负责的。在将来,我们希望找到几种方案来进行那些突变的治疗,也就是突变挽救。迄今为止,我们还不能做到,因为突变有太多不同的类型。目前,在动物水平和细胞水平上,我们获得了某些药物可以挽救突变。然而,这些药物作用于人类是否可期是很难预测的。我们需要更多的从细胞试验到动物试验的研究并且最终进行到人类的治疗研究。