Beattie Christine E, Carrel Tessa L, McWhorter Michelle L
Ohio State University Center for Molecular Neurobiology, Department of Neuroscience, Columbus, OH, USA.
J Child Neurol. 2007 Aug;22(8):995-1003. doi: 10.1177/0883073807305671.
Motoneuron diseases cause paralysis and death due to loss of motoneurons that innervate skeletal muscle. Spinal muscular atrophy is a human motoneuron disease that is genetically linked to the survival motor neuron gene (SMN). Although SMN was identified more than a decade ago, it remains unclear how decreased levels of the SMN protein cause spinal muscular atrophy. The use of animal models, however, offers a crucial tool in determining the function of SMN in this disease. In this review, we discuss our efforts to develop a zebrafish model of spinal muscular atrophy.
运动神经元疾病会导致瘫痪和死亡,原因是支配骨骼肌的运动神经元丧失。脊髓性肌萎缩症是一种人类运动神经元疾病,与生存运动神经元基因(SMN)存在遗传关联。尽管SMN在十多年前就已被发现,但尚不清楚SMN蛋白水平降低如何导致脊髓性肌萎缩症。然而,动物模型的使用为确定SMN在这种疾病中的功能提供了关键工具。在这篇综述中,我们讨论了我们为开发脊髓性肌萎缩症斑马鱼模型所做的努力。