Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki 444-8787, Japan; Department of Physiological Sciences, School of Life Science, SOKENDAI, The Graduate University for Advanced Studies, Okazaki 444-8787, Japan.
Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki 444-8787, Japan; Department of Physiological Sciences, School of Life Science, SOKENDAI, The Graduate University for Advanced Studies, Okazaki 444-8787, Japan.
Curr Opin Neurobiol. 2017 Aug;45:1-8. doi: 10.1016/j.conb.2017.02.001. Epub 2017 Feb 20.
Throughout history, epilepsy affects about 1-2% of the population worldwide. Epilepsy can be caused by traumatic brain injury, exposure to certain toxins and drugs, and mutations of genes that often encode synaptic proteins. In addition to conventional linkage and association studies, the recent trio exome sequencing in epilepsy and proteomic analysis in autoimmune synaptopathies have accelerated identification of novel epilepsy-related proteins, most of which play critical roles in synaptic transmission. Furthermore, super-resolution microscopy analysis has revealed subsynaptic nanoscale distribution of presynaptic and postsynaptic proteins and suggests a precise trans-synaptic alignment of neurotransmitter release to receptors. Such identification and characterization of epilepsy-related synaptic proteins have been promoting the development of anti-epileptic drugs and the understanding of mechanisms of synaptic transmission.
从古至今，全世界大约有 1-2%的人口患有癫痫。癫痫可由脑外伤、接触某些毒素和药物以及编码突触蛋白的基因突变引起。除了传统的连锁和关联研究外，最近在癫痫中的 trio 外显子组测序和自身免疫突触病中的蛋白质组学分析加速了对新型癫痫相关蛋白的鉴定，这些蛋白大多在突触传递中起关键作用。此外，超分辨率显微镜分析揭示了突触前和突触后蛋白的亚突触纳米尺度分布，并提示神经递质释放到受体的精确跨突触对准。这种对癫痫相关突触蛋白的鉴定和特征描述一直在促进抗癫痫药物的开发和对突触传递机制的理解。
