Institute of Neurology, University College London, Department of Clinical Neurology, Queen Square, London WC1N 3BG, UK.
J Physiol. 2010 Jun 1;588(Pt 11):1823-7. doi: 10.1113/jphysiol.2010.190652. Epub 2010 Apr 7.
Inherited mutations of ion channels provide unique insights into the mechanisms of many neurological diseases. However, they also provide a wealth of new information on the fundamental biology of ion channels and on neuron and muscle function. Ion channel genes are continuing to be discovered by positional cloning of disease loci. And some mutations provide unique tools to manipulate signalling cascades, which cannot be achieved by pharmacological intervention. Here we highlight some unanswered questions, and some promising areas for research that will likely lead to a fuller understanding of the link from molecular lesion to disease.
离子通道的遗传突变为许多神经疾病的机制提供了独特的见解。然而,它们也为离子通道的基础生物学以及神经元和肌肉功能提供了丰富的新信息。离子通道基因通过疾病基因座的定位克隆不断被发现。一些突变提供了独特的工具来操纵信号级联,这是药理学干预无法实现的。在这里,我们强调了一些未解决的问题,以及一些有前途的研究领域,这些领域可能会导致对从分子病变到疾病的联系有更全面的理解。