FUS 功能的丧失和获得会损害肌萎缩侧索硬化症遗传模型中的神经肌肉突触传递。
Loss and gain of FUS function impair neuromuscular synaptic transmission in a genetic model of ALS.
机构信息
Department of Pathology and Cell Biology and Groupe de Recherche sur le Système Nerveux Central, Université de Montréal, Montréal, QC, Canada H3C 3J7.
出版信息
Hum Mol Genet. 2013 Nov 1;22(21):4282-92. doi: 10.1093/hmg/ddt278. Epub 2013 Jun 13.
Amyotrophic lateral sclerosis (ALS) presents clinically in adulthood and is characterized by the loss of motoneurons in the spinal cord and cerebral cortex. Animal models of the disease suggest that significant neuronal abnormalities exist during preclinical stages of the disease. Mutations in the gene fused in sarcoma (FUS) are associated with ALS and cause impairment in motor function in animal models. However, the mechanism of neuromuscular dysfunction underlying pathophysiological deficits causing impairment in locomotor function resulting from mutant FUS expression is unknown. To characterize the cellular pathophysiological defect, we expressed the wild-type human gene (wtFUS) or the ALS-associated mutation R521H (mutFUS) gene in zebrafish larvae and characterized their motor (swimming) activity and function of their neuromuscular junctions (NMJs). Additionally, we tested knockdown of zebrafish fus with an antisense morpholino oligonucleotide (fus AMO). Expression of either mutFUS or knockdown of fus resulted in impaired motor activity and reduced NMJ synaptic fidelity with reduced quantal transmission. Primary motoneurons expressing mutFUS were found to be more excitable. These impairments in neuronal function could be partially restored in fus AMO larvae also expressing wtFUS (fus AMO+wtFUS) but not mutFUS (fus AMO+mutFUS). These results show that both a loss and gain of FUS function result in defective presynaptic function at the NMJ.
肌萎缩侧索硬化症(ALS)在成年期发病,其特征是脊髓和大脑皮层中的运动神经元丧失。该疾病的动物模型表明,在疾病的临床前阶段存在显著的神经元异常。融合基因肉瘤(FUS)中的突变与 ALS 相关,并在动物模型中导致运动功能障碍。然而,导致由突变 FUS 表达引起的运动功能障碍的神经肌肉功能障碍的病理生理缺陷的机制尚不清楚。为了描述细胞病理生理学缺陷,我们在斑马鱼幼虫中表达了野生型人类基因(wtFUS)或与 ALS 相关的突变 R521H(mutFUS)基因,并描述了它们的运动(游泳)活动和神经肌肉接头(NMJ)的功能。此外,我们用反义吗啉代寡核苷酸(fus AMO)测试了斑马鱼 fus 的敲低。mutFUS 的表达或 fus 的敲低导致运动活动受损,NMJ 突触保真度降低,量子传递减少。表达 mutFUS 的原代运动神经元被发现更易兴奋。这些神经元功能的损伤可以在 fus AMO 幼虫中部分恢复,这些幼虫也表达 wtFUS(fus AMO+wtFUS),但不表达 mutFUS(fus AMO+mutFUS)。这些结果表明,FUS 功能的丧失和获得都会导致 NMJ 处的突触前功能缺陷。