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WDR79/TCAB1 在运动控制中起保守作用,并改善 SMA 模型的表型缺陷。

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models.

机构信息

Istituto Pasteur-Fondazione Cenci Bolognetti, Dipartimento di Biologia e Biotecnologie, Sapienza Università di Roma, Rome, Italy.

Institute of Genetics and Biophysics - ABT, CNR, Naples, Italy.

出版信息

Neurobiol Dis. 2017 Sep;105:42-50. doi: 10.1016/j.nbd.2017.05.005. Epub 2017 May 11.

Abstract

SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death. Although SMN is required in every cell for proper RNA metabolism, the reason why its loss is especially critical in the motor system is still unclear. SMA genetic models have been employed to identify several modifiers that can ameliorate the deficits induced by SMN depletion. Here we focus on WDR79/TCAB1, a protein important for the biogenesis of several RNA species that has been shown to physically interact with SMN in human cells. We show that WDR79 depletion results in locomotion defects in both Drosophila and Caenorhabditis elegans similar to those elicited by SMN depletion. Consistent with this observation, we find that SMN overexpression rescues the WDR79 loss-of-function phenotype in flies. Most importantly, we also found that WDR79 overexpression ameliorates the locomotion defects induced by SMN depletion in both flies and worms. Our results collectively suggest that WDR79 and SMN play evolutionarily conserved cooperative functions in the nervous system and suggest that WDR79/TCAB1 may have the potential to modify SMA pathogenesis.

摘要

运动神经元存活(SMN)缺陷是脊髓性肌萎缩症(SMA)的主要原因,SMA 是一种严重的神经退行性疾病,可导致进行性瘫痪和死亡。尽管 SMN 是每个细胞中正确的 RNA 代谢所必需的,但它的缺失在运动系统中尤为关键的原因仍不清楚。SMA 遗传模型已被用于鉴定几种修饰因子,这些修饰因子可以改善 SMN 耗竭引起的缺陷。在这里,我们重点关注 WDR79/TCAB1,这是一种对几种 RNA 物种的生物发生很重要的蛋白质,已在人类细胞中显示出与 SMN 物理相互作用。我们表明,WDR79 耗竭会导致果蝇和秀丽隐杆线虫的运动缺陷,类似于 SMN 耗竭引起的运动缺陷。与这一观察结果一致,我们发现 SMN 过表达可挽救果蝇中 WDR79 功能丧失表型。最重要的是,我们还发现 WDR79 过表达可改善果蝇和线虫中 SMN 耗竭引起的运动缺陷。我们的研究结果表明,WDR79 和 SMN 在神经系统中发挥着进化上保守的协同功能,并表明 WDR79/TCAB1 可能具有修饰 SMA 发病机制的潜力。

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