KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology, and Leuven Brain Institute (LBI), Leuven, Belgium; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, Leuven, Belgium; KU Leuven-Stem Cell Institute (SCIL), Leuven, Belgium.
KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology, and Leuven Brain Institute (LBI), Leuven, Belgium; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, Leuven, Belgium.
Semin Cell Dev Biol. 2020 Mar;99:133-150. doi: 10.1016/j.semcdb.2019.07.010. Epub 2019 Sep 18.
Because of the extremely polarized morphology, the proper functioning of neurons largely relies on the efficient cargo transport along the axon. Axonal transport defects have been reported in multiple neurodegenerative diseases as an early pathological feature. The discovery of mutations in human genes involved in the transport machinery provide a direct causative relationship between axonal transport defects and neurodegeneration. Here, we summarize the current genetic findings related to axonal transport in neurodegenerative diseases, and we discuss the relationship between axonal transport defects and other pathological changes observed in neurodegeneration. In addition, we summarize the therapeutic approaches targeting the axonal transport machinery in studies of neurodegenerative diseases. Finally, we review the technical advances in tracking axonal transport both in vivo and in vitro.
由于形态极度两极化，神经元的正常功能在很大程度上依赖于沿着轴突的有效货物运输。在多种神经退行性疾病中，轴突运输缺陷已被报道为早期的病理特征。在参与运输机制的人类基因中发现突变，为轴突运输缺陷与神经退行性变之间的直接因果关系提供了证据。在这里，我们总结了与神经退行性疾病中轴突运输相关的当前遗传发现，并讨论了轴突运输缺陷与神经退行性变中观察到的其他病理变化之间的关系。此外，我们还总结了神经退行性疾病研究中针对轴突运输机制的治疗方法。最后，我们回顾了在体内和体外追踪轴突运输的技术进展。
