Olshina Maya A, Angley Lauren M, Ramdzan Yasmin M, Tang Jinwei, Bailey Michael F, Hill Andrew F, Hatters Danny M
Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, 30 Flemington Road, Parkville, Victoria 3010, Australia.
J Biol Chem. 2010 Jul 9;285(28):21807-16. doi: 10.1074/jbc.M109.084434. Epub 2010 May 5.
Huntington disease is caused by expanded polyglutamine sequences in huntingtin, which procures its aggregation into intracellular inclusion bodies (IBs). Aggregate intermediates, such as soluble oligomers, are predicted to be toxic to cells, yet because of a lack of quantitative methods, the kinetics of aggregation in cells remains poorly understood. We used sedimentation velocity analysis to define and compare the heterogeneity and flux of purified huntingtin with huntingtin expressed in mammalian cells under non-denaturing conditions. Non-pathogenic huntingtin remained as hydrodynamically elongated monomers in vitro and in cells. Purified polyglutamine-expanded pathogenic huntingtin formed elongated monomers (2.4 S) that evolved into a heterogeneous aggregate population of increasing size over time (100-6,000 S). However, in cells, mutant huntingtin formed three major populations: monomers (2.3 S), oligomers (mode s(20,w) = 140 S) and IBs (mode s(20,w) = 320,000 S). Strikingly, the oligomers did not change in size heterogeneity or in their proportion of total huntingtin over 3 days despite continued monomer conversion to IBs, suggesting that oligomers are rate-limiting intermediates to IB formation. We also determined how a chaperone known to modulate huntingtin toxicity, Hsc70, influences in-cell huntingtin partitioning. Hsc70 decreased the pool of 140 S oligomers but increased the overall flux of monomers to IBs, suggesting that Hsc70 reduces toxicity by facilitating transfer of oligomers into IBs. Together, our data suggest that huntingtin aggregation is streamlined in cells and is consistent with the 140 S oligomers, which remain invariant over time, as a constant source of toxicity to cells irrespective of total load of insoluble aggregates.
亨廷顿舞蹈症是由亨廷顿蛋白中多聚谷氨酰胺序列扩增引起的,这会促使其聚集成细胞内包涵体(IBs)。聚集中间体,如可溶性寡聚体,预计对细胞有毒性,但由于缺乏定量方法,细胞内聚集的动力学仍知之甚少。我们使用沉降速度分析来定义和比较在非变性条件下纯化的亨廷顿蛋白与在哺乳动物细胞中表达的亨廷顿蛋白的异质性和通量。非致病性亨廷顿蛋白在体外和细胞中均保持为流体动力学上伸长的单体。纯化的多聚谷氨酰胺扩增的致病性亨廷顿蛋白形成伸长的单体(2.4 S),随着时间的推移会演变成大小不断增加的异质聚集群体(100 - 6,000 S)。然而,在细胞中,突变型亨廷顿蛋白形成了三个主要群体:单体(2.3 S)、寡聚体(模式s(20,w) = 140 S)和包涵体(模式s(20,w) = 320,000 S)。令人惊讶的是,尽管单体持续转化为包涵体,但寡聚体在3天内的大小异质性或其在总亨廷顿蛋白中的比例并未改变,这表明寡聚体是包涵体形成的限速中间体。我们还确定了一种已知可调节亨廷顿蛋白毒性的伴侣蛋白Hsc70如何影响细胞内亨廷顿蛋白的分配。Hsc70减少了140 S寡聚体的数量,但增加了单体向包涵体的总体通量,这表明Hsc70通过促进寡聚体向包涵体的转移来降低毒性。总之,我们的数据表明亨廷顿蛋白聚集在细胞中是简化的,并且与140 S寡聚体一致,无论不溶性聚集体的总负荷如何,这些寡聚体随时间保持不变,是细胞毒性的恒定来源。