Department of Neurology and Center for Neuroscience and Regeneration Research, Yale University School of Medicine, New Haven, CT 06510, USA.
Trends Mol Med. 2013 Jul;19(7):406-9. doi: 10.1016/j.molmed.2013.04.003. Epub 2013 May 8.
The universe of painful Na-channelopathies--human disorders caused by mutations in voltage-gated sodium channels--has recently expanded in three dimensions. We now know that mutations of sodium channels cause not only rare genetic 'model disorders' such as inherited erythromelalgia and channelopathy-associated insensitivity to pain but also common painful neuropathies. We have learned that mutations of NaV1.8, as well as mutations of NaV1.7, can cause painful Na-channelopathies. Moreover, recent studies combining atomic level structural models and pharmacogenomics suggest that the goal of genomically guided pain therapy may not be unrealistic.
疼痛钠离子通道病的世界——电压门控钠离子通道突变引起的人类疾病——最近在三个维度上扩展了。我们现在知道，钠离子通道的突变不仅会导致罕见的遗传性“模式疾病”，如遗传性红斑性肢痛症和与通道病相关的痛觉不敏感，还会导致常见的疼痛性神经病变。我们已经了解到 NaV1.8 和 NaV1.7 的突变都可能导致疼痛钠离子通道病。此外，最近结合原子水平结构模型和药物基因组学的研究表明，基于基因组指导的疼痛治疗的目标可能并非不切实际。
