Gauthier Laurent R, Charrin Bénédicte C, Borrell-Pagès Maria, Dompierre Jim P, Rangone Hélène, Cordelières Fabrice P, De Mey Jan, MacDonald Marcy E, Lessmann Volkmar, Humbert Sandrine, Saudou Frédéric
Unité Mixte de Recherche 146, Centre National de la Recherche Scientifique, Institut Curie, Building 110, Centre Universitaire, 91405 Orsay Cedex, France.
Cell. 2004 Jul 9;118(1):127-38. doi: 10.1016/j.cell.2004.06.018.
Polyglutamine expansion (polyQ) in the protein huntingtin is pathogenic and responsible for the neuronal toxicity associated with Huntington's disease (HD). Although wild-type huntingtin possesses antiapoptotic properties, the relationship between the neuroprotective functions of huntingtin and pathogenesis of HD remains unclear. Here, we show that huntingtin specifically enhances vesicular transport of brain-derived neurotrophic factor (BDNF) along microtubules. Huntingtin-mediated transport involves huntingtin-associated protein-1 (HAP1) and the p150(Glued) subunit of dynactin, an essential component of molecular motors. BDNF transport is attenuated both in the disease context and by reducing the levels of wild-type huntingtin. The alteration of the huntingtin/HAP1/p150(Glued) complex correlates with reduced association of motor proteins with microtubules. Finally, we find that the polyQ-huntingtin-induced transport deficit results in the loss of neurotrophic support and neuronal toxicity. Our findings indicate that a key role of huntingtin is to promote BDNF transport and suggest that loss of this function might contribute to pathogenesis.
亨廷顿蛋白中的聚谷氨酰胺扩增(polyQ)具有致病性,是与亨廷顿舞蹈症(HD)相关的神经元毒性的原因。尽管野生型亨廷顿蛋白具有抗凋亡特性,但亨廷顿蛋白的神经保护功能与HD发病机制之间的关系仍不清楚。在此,我们表明亨廷顿蛋白特异性增强脑源性神经营养因子(BDNF)沿微管的囊泡运输。亨廷顿蛋白介导的运输涉及亨廷顿相关蛋白1(HAP1)和动力蛋白激活蛋白的p150(Glued)亚基,分子马达的一个重要组成部分。在疾病情况下以及通过降低野生型亨廷顿蛋白的水平,BDNF运输都会减弱。亨廷顿蛋白/HAP1/p150(Glued)复合物的改变与运动蛋白与微管的结合减少相关。最后,我们发现polyQ-亨廷顿蛋白诱导的运输缺陷导致神经营养支持丧失和神经元毒性。我们的研究结果表明亨廷顿蛋白的一个关键作用是促进BDNF运输,并表明这种功能的丧失可能导致发病机制。