Summerville James B, Faust Joseph F, Fan Ethan, Pendin Diana, Daga Andrea, Formella Joseph, Stern Michael, McNew James A
Department of BioSciences, Program in Biochemistry and Cell Biology, Rice University, Houston, TX 77005, USA.
CNR, Neuroscience Institute, 35121 Padova, Italy.
J Cell Sci. 2016 Apr 15;129(8):1635-48. doi: 10.1242/jcs.184929. Epub 2016 Feb 23.
Hereditary spastic paraplegia (HSP) is a set of genetic diseases caused by mutations in one of 72 genes that results in age-dependent corticospinal axon degeneration accompanied by spasticity and paralysis. Two genes implicated in HSPs encode proteins that regulate endoplasmic reticulum (ER) morphology. Atlastin 1 (ATL1, also known as SPG3A) encodes an ER membrane fusion GTPase and reticulon 2 (RTN2, also known as SPG12) helps shape ER tube formation. Here, we use a new fluorescent ER marker to show that the ER within wild-type Drosophila motor nerve terminals forms a network of tubules that is fragmented and made diffuse upon loss of the atlastin 1 ortholog atl. atl or Rtnl1 loss decreases evoked transmitter release and increases arborization. Similar to other HSP proteins, Atl inhibits bone morphogenetic protein (BMP) signaling, and loss of atl causes age-dependent locomotor deficits in adults. These results demonstrate a crucial role for ER in neuronal function, and identify mechanistic links between ER morphology, neuronal function, BMP signaling and adult behavior.
遗传性痉挛性截瘫(HSP)是一组由72个基因中的一个发生突变引起的遗传性疾病,这些基因突变会导致年龄依赖性的皮质脊髓轴突退化,并伴有痉挛和瘫痪。与HSP相关的两个基因编码调节内质网(ER)形态的蛋白质。Atlastin 1(ATL1,也称为SPG3A)编码一种内质网膜融合GTP酶,而网质蛋白2(RTN2,也称为SPG12)有助于内质网管状结构的形成。在这里,我们使用一种新的荧光内质网标记物来表明,野生型果蝇运动神经末梢内的内质网形成了一个管状网络,在atlastin 1的直系同源基因atl缺失时,该网络会碎片化并变得弥散。atl或Rtnl1缺失会减少诱发的递质释放并增加分支。与其他HSP蛋白类似,Atl抑制骨形态发生蛋白(BMP)信号传导,atl缺失会导致成年果蝇出现年龄依赖性的运动缺陷。这些结果证明了内质网在神经元功能中的关键作用,并确定了内质网形态、神经元功能、BMP信号传导和成年行为之间的机制联系。