Zufall Frank, Pyrski Martina, Weiss Jan, Leinders-Zufall Trese
Department of Physiology, University of Saarland School of Medicine, Kirrbergerstrasse 1, Bldg 58, D-66421 Homburg, Germany.
Arch Neurol. 2012 Sep;69(9):1119-23. doi: 10.1001/archneurol.2012.21.
In a major breakthrough in our understanding of human olfaction, a recent study showed that loss-of-function mutations in the voltage-gated sodium channel Nav1.7, encoded by the gene SCN9A, cause a loss of the sense of smell (congenital general anosmia) in mice and humans. These findings are of special clinical relevance because Nav1.7 was previously known for its essential role in the perception of pain; therefore, this channel is being explored as a promising target in the search for novel analgesics. This advance offers a functional understanding of a monogenic human disorder that is characterized by a loss of 2 major senses-nociception and smell-thus providing an unexpected mechanistic link between these 2 sensory modalities.
在我们对人类嗅觉理解的一项重大突破中，最近的一项研究表明，由基因SCN9A编码的电压门控钠通道Nav1.7中的功能丧失突变，会导致小鼠和人类嗅觉丧失（先天性全嗅觉缺失）。这些发现具有特殊的临床意义，因为Nav1.7此前因其在痛觉感知中的重要作用而闻名；因此，该通道正作为寻找新型镇痛药的一个有前景的靶点进行探索。这一进展提供了对一种单基因人类疾病的功能理解，该疾病的特征是丧失两种主要感觉——痛觉和嗅觉——从而在这两种感觉模式之间提供了一个意想不到的机制联系。
