Lee Mihye, Paik Sang Kyoo, Lee Min-Jung, Kim Yoon-Jung, Kim Sungdae, Nahm Minyeop, Oh Soo-Jin, Kim Hyun-Man, Yim Jeongbin, Lee C Justin, Bae Yong Chul, Lee Seungbok
Department of Cell and Developmental Biology, Dental Research Institute, School of Dentistry, Seoul National University, Seoul 110-740, Republic of Korea.
Dev Biol. 2009 Jun 15;330(2):250-62. doi: 10.1016/j.ydbio.2009.03.019. Epub 2009 Mar 31.
Hereditary spastic paraplegia (HSP) is an inherited neurological disorder characterized by progressive spasticity and weakness of the lower extremities. The most common early-onset form of HSP is caused by mutations in the human gene that encodes the dynamin-family GTPase Atlastin-1 (Atl-1). Recently, loss of the Drosophila ortholog of Atl-1 (Atl) has been found to induce locomotor impairments from the earliest adult stages, suggesting the developmental role of atlastin-subfamily GTPases. Here, we provide evidence that Atl is required for normal growth of muscles and synapses at the neuromuscular junction (NMJ). Atl protein is highly expressed in larval body-wall muscles. Loss-of-function mutations in the atl gene reduce the size of muscles and increase the number of synaptic boutons. Rescue of these defects is accomplished by muscular, but not neuronal expression of Atl. Loss of Atl also disrupts ER and Golgi morphogenesis in muscles and reduces the synaptic levels of the scaffold proteins Dlg and alpha-spectrin. We also provide evidence that Atl functions with the microtubule-severing protein Spastin to disassemble microtubules in muscles. Finally, we demonstrate that the microtubule-destabilizing drug vinblastine alleviates synapse and muscle defects in atl mutants. Together, our results suggest that Atl controls synapse development and ER and Golgi morphogenesis by regulating microtubule stability.
遗传性痉挛性截瘫(HSP)是一种遗传性神经系统疾病,其特征为下肢进行性痉挛和无力。HSP最常见的早发型形式是由编码发动蛋白家族GTP酶Atlastin-1(Atl-1)的人类基因突变引起的。最近,已发现果蝇中Atl-1的直系同源物(Atl)缺失会从成虫早期阶段就诱导运动障碍,这表明发动蛋白亚家族GTP酶在发育过程中发挥作用。在此,我们提供证据表明,Atl是神经肌肉接头(NMJ)处肌肉和突触正常生长所必需的。Atl蛋白在幼虫体壁肌肉中高度表达。atl基因的功能丧失突变会减小肌肉大小并增加突触小体的数量。通过肌肉而非神经元表达Atl可挽救这些缺陷。Atl的缺失还会破坏肌肉中的内质网和高尔基体形态发生,并降低支架蛋白Dlg和α-血影蛋白的突触水平。我们还提供证据表明,Atl与微管切断蛋白Spastin共同作用以分解肌肉中的微管。最后,我们证明微管破坏药物长春碱可减轻atl突变体中的突触和肌肉缺陷。总之,我们的结果表明,Atl通过调节微管稳定性来控制突触发育以及内质网和高尔基体形态发生。