Laboratory of Transcriptional Neurobiology, Department of Cellular, Computational and Integrative Biology - CIBIO, University of Trento, Trento 38123, Italy; Dulbecco Telethon Institute, Department of Cellular, Computational and Integrative Biology - CIBIO, University of Trento, Trento 38123, Italy; Department of Biomedical Sciences (DBS), University of Padova, Padova 35131, Italy.
Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, GIN, Grenoble 38000, France.
Cell Rep. 2021 Apr 13;35(2):108980. doi: 10.1016/j.celrep.2021.108980.
The huntingtin (HTT) protein transports various organelles, including vesicles containing neurotrophic factors, from embryonic development throughout life. To better understand how HTT mediates axonal transport and why this function is disrupted in Huntington's disease (HD), we study vesicle-associated HTT and find that it is dimethylated at a highly conserved arginine residue (R118) by the protein arginine methyltransferase 6 (PRMT6). Without R118 methylation, HTT associates less with vesicles, anterograde trafficking is diminished, and neuronal death ensues-very similar to what occurs in HD. Inhibiting PRMT6 in HD cells and neurons exacerbates mutant HTT (mHTT) toxicity and impairs axonal trafficking, whereas overexpressing PRMT6 restores axonal transport and neuronal viability, except in the presence of a methylation-defective variant of mHTT. In HD flies, overexpressing PRMT6 rescues axonal defects and eclosion. Arginine methylation thus regulates HTT-mediated vesicular transport along the axon, and increasing HTT methylation could be of therapeutic interest for HD.
亨廷顿蛋白(HTT)在胚胎发育和整个生命周期中运输各种细胞器,包括含有神经营养因子的囊泡。为了更好地理解 HTT 如何介导轴突运输,以及为什么这种功能在亨廷顿病(HD)中受到破坏,我们研究了与囊泡相关的 HTT,并发现它被蛋白质精氨酸甲基转移酶 6(PRMT6)在一个高度保守的精氨酸残基(R118)上进行二甲基化。没有 R118 甲基化,HTT 与囊泡的结合减少,顺行运输减少,神经元死亡随之而来-与 HD 中发生的情况非常相似。在 HD 细胞和神经元中抑制 PRMT6 会加剧突变 HTT(mHTT)的毒性并损害轴突运输,而过表达 PRMT6 会恢复轴突运输和神经元活力,但在存在 mHTT 的甲基化缺陷变体的情况下除外。在 HD 果蝇中,过表达 PRMT6 可挽救轴突缺陷和出蛹。因此,精氨酸甲基化调节 HTT 介导的沿着轴突的囊泡运输,增加 HTT 甲基化可能对 HD 具有治疗意义。