Neural Development Section, Mouse Cancer Genetics Program, CCR, NCI, Frederick, MD, 21702, USA.
Physiological Science Section, Department of Experimental and Clinical Medicine, University of Florence, Italy.
Sci Rep. 2016 Sep 8;6:32957. doi: 10.1038/srep32957.
Nedd4-2 (NEDD4L in humans) is a ubiquitin protein ligase best known for its role in regulating ion channel internalization and turnover. Nedd4-2 deletion in mice causes perinatal lethality associated with increased epithelial sodium channel (ENaC) expression in lung and kidney. Abundant data suggest that Nedd4-2 plays a role in neuronal functions and may be linked to epilepsy and dyslexia in humans. We used a mouse model of Nedd4-2 haploinsufficiency to investigate whether an alteration in Nedd4-2 levels of expression affects general nervous system functions. We found that Nedd4-2 heterozygous mice are hyperactive, have increased basal synaptic transmission and have enhanced sensitivity to inflammatory pain. Thus, Nedd4-2 heterozygous mice provide a new genetic model to study inflammatory pain. These data also suggest that in human, SNPs affecting NEDD4L levels may be involved in the development of neuropsychological deficits and peripheral neuropathies and may help unveil the genetic basis of comorbidities.
Nedd4-2(人类中的 NEDD4L)是一种泛素蛋白连接酶,其功能主要与调节离子通道内化和周转有关。在小鼠中敲除 Nedd4-2 会导致围产期致死,这与肺和肾中上皮钠离子通道(ENaC)表达增加有关。大量数据表明,Nedd4-2 在神经元功能中发挥作用,可能与人的癫痫和诵读困难有关。我们使用 Nedd4-2 杂合子不足的小鼠模型来研究 Nedd4-2 表达水平的变化是否会影响神经系统的一般功能。我们发现,Nedd4-2 杂合子小鼠表现出过度活跃,基础突触传递增强,对炎症性疼痛的敏感性增强。因此,Nedd4-2 杂合子小鼠为研究炎症性疼痛提供了一个新的遗传模型。这些数据还表明,在人类中,影响 NEDD4L 水平的 SNP 可能与神经心理缺陷和周围神经病变的发展有关,并可能有助于揭示共病的遗传基础。