Hetz Claudio, Lee Ann-Hwee, Gonzalez-Romero Dennisse, Thielen Peter, Castilla Joaquín, Soto Claudio, Glimcher Laurie H
Department of Immunology and Infectious Diseases, Harvard School of Public Health, Boston, MA 02115, USA.
Proc Natl Acad Sci U S A. 2008 Jan 15;105(2):757-62. doi: 10.1073/pnas.0711094105. Epub 2008 Jan 4.
The unfolded protein response (UPR) is a conserved adaptive reaction that increases cell survival under endoplasmic reticulum (ER) stress conditions. X-box-binding protein-1 (XBP-1) is a key transcriptional regulator of the UPR that activates genes involved in protein folding, secretion, and degradation to restore ER function. The occurrence of chronic ER stress has been extensively described in neurodegenerative conditions linked to protein misfolding and aggregation. However, the role of the UPR in the CNS has not been addressed directly. Here we describe the generation of a brain-specific XBP-1 conditional KO strain (XBP-1(Nes-/-)). XBP-1(Nes-/-) mice are viable and do not develop any spontaneous neurological dysfunction, although ER stress signaling in XBP-1(Nes-/-) primary neuronal cell cultures was impaired. To assess the function of XBP-1 in pathological conditions involving protein misfolding and ER stress, we infected XBP-1(Nes-/-) mice with murine prions. To our surprise, the activation of stress responses triggered by prion replication was not influenced by XBP-1 deficiency. Neither prion aggregation, neuronal loss, nor animal survival was affected. Hence, this most highly conserved arm of the UPR may not contribute to the occurrence or pathology of neurodegenerative conditions associated with prion protein misfolding despite predictions that such diseases are related to ER stress and irreversible neuronal damage.
未折叠蛋白反应(UPR)是一种保守的适应性反应,可在内质网(ER)应激条件下提高细胞存活率。X盒结合蛋白1(XBP-1)是UPR的关键转录调节因子,可激活参与蛋白质折叠、分泌和降解的基因,以恢复内质网功能。慢性内质网应激的发生已在与蛋白质错误折叠和聚集相关的神经退行性疾病中得到广泛描述。然而,UPR在中枢神经系统中的作用尚未得到直接研究。在这里,我们描述了一种脑特异性XBP-1条件性敲除品系(XBP-1(Nes-/-))的产生。XBP-1(Nes-/-)小鼠能够存活,且未出现任何自发性神经功能障碍,尽管XBP-1(Nes-/-)原代神经元细胞培养中的内质网应激信号传导受损。为了评估XBP-1在涉及蛋白质错误折叠和内质网应激的病理条件下的功能,我们用鼠朊病毒感染了XBP-1(Nes-/-)小鼠。令我们惊讶的是,朊病毒复制引发的应激反应激活不受XBP-1缺乏的影响。朊病毒聚集、神经元丢失或动物存活均未受影响。因此,尽管预测这些疾病与内质网应激和不可逆的神经元损伤有关,但UPR这一最为保守的分支可能与与朊病毒蛋白错误折叠相关的神经退行性疾病的发生或病理无关。