Bosica Marco, Grasselli Chiara, Panfili Andrea, Orsini Franca, Fioriti Luana
Istituto di Ricerche Farmacologiche Mario Negri IRCCS, 20156 Milano, Italy.
Department of Cell Biology and Pathology, Columbia University, New York, NY 10032, USA.
Int J Mol Sci. 2025 Aug 22;26(17):8162. doi: 10.3390/ijms26178162.
Huntington's Disease (HD) originates from the expansion of a polyglutamine (PolyQ) tract in the huntingtin protein (Htt), which can assume a coiled-coil fold (Cc). We previously found that Cc structures mediate the aggregation and toxicity of polyQ Htt. Since polyQ Htt aggregates were previously found to be internalized by cells, here we hypothesize that Cc structures might be implicated in the intercellular propagation of Htt aggregates. To test this hypothesis, we performed experiments using human cell lines expressing Htt proteins with different probabilities to acquire a Cc fold. We found that Htt with reduced Cc structures were released significantly less compared to Htt with intact Cc structures. We also found that Cc structures mediate the internalization of Htt proteins in recipient cells. Together, these results underline the importance of the Cc structure in the process of intercellular propagation of Htt polyQ aggregates and suggest that interfering with Cc formation might be a therapeutic strategy for HD.
亨廷顿舞蹈症(HD)源于亨廷顿蛋白(Htt)中多聚谷氨酰胺(PolyQ)序列的扩增,该序列可形成卷曲螺旋结构(Cc)。我们之前发现,Cc结构介导了PolyQ Htt的聚集和毒性。由于此前发现PolyQ Htt聚集体可被细胞内化,因此我们推测Cc结构可能与Htt聚集体的细胞间传播有关。为验证这一假设,我们使用表达具有不同概率形成Cc折叠的Htt蛋白的人类细胞系进行了实验。我们发现,与具有完整Cc结构的Htt相比,Cc结构减少的Htt释放量显著降低。我们还发现,Cc结构介导了Htt蛋白在受体细胞中的内化。这些结果共同强调了Cc结构在Htt PolyQ聚集体细胞间传播过程中的重要性,并表明干扰Cc的形成可能是治疗HD的一种策略。