Department of Basic Science, Charles E. Schmidt College of Biomedical Science, Florida Atlantic University, Boca Raton, FL 33431, USA.
Eur J Neurosci. 2010 Jun;31(11):1915-25. doi: 10.1111/j.1460-9568.2010.07215.x. Epub 2010 May 24.
Huntington's disease (HD) is a devastating neurodegenerative disorder caused by an expanded polyglutamine repeat within the N-terminus of the huntingtin protein. It is characterized by a selective loss of medium spiny neurons in the striatum. It has been suggested that impaired proteasome function and endoplasmic reticulum (ER) stress play important roles in mutant huntingtin (mHtt)-induced cell death. However, the molecular link involved is poorly understood. In the present study, we identified the essential role of the extra long form of Bim (Bcl-2 interacting mediator of cell death), BimEL, in mHtt-induced cell death. BimEL protein expression level was significantly increased in cell lines expressing the N-terminus of mHtt and in a mouse model of HD. Although quantitative RT-PCR analysis indicated that BimEL mRNA was increased in cells expressing mHtt, we provided evidence showing that, at the post-translational level, phosphorylation of BimEL played a more important role in regulating BimEL expression. Up-regulation of BimEL facilitated the translocation of Bax to the mitochondrial membrane, which further led to cytochrome c release and cell death. On the other hand, knocking down BimEL expression prevented mHtt-induced cell death. Taken together, these findings suggest that BimEL is a key element in regulating mHtt-induced cell death. A model depicting the role of BimEL in linking mHtt-induced ER stress and proteasome dysfunction to cell death is proposed.
亨廷顿病(HD)是一种由亨廷顿蛋白 N 端的扩展聚谷氨酰胺重复引起的破坏性神经退行性疾病。它的特征是纹状体中型多棘神经元的选择性丧失。有人认为,蛋白酶体功能受损和内质网(ER)应激在突变型亨廷顿蛋白(mHtt)诱导的细胞死亡中发挥重要作用。然而,涉及的分子联系尚不清楚。在本研究中,我们确定了 Bim(细胞死亡的 Bcl-2 相互作用介体)的超长形式 BimEL 在 mHtt 诱导的细胞死亡中的重要作用。在表达 mHtt 的细胞系和 HD 小鼠模型中,BimEL 蛋白表达水平显著增加。尽管定量 RT-PCR 分析表明表达 mHtt 的细胞中 BimEL mRNA 增加,但我们提供的证据表明,在翻译后水平上,BimEL 的磷酸化在调节 BimEL 表达方面起着更重要的作用。BimEL 的上调促进了 Bax 向线粒体膜的易位,这进一步导致细胞色素 c 释放和细胞死亡。另一方面,敲低 BimEL 表达可防止 mHtt 诱导的细胞死亡。总之,这些发现表明 BimEL 是调节 mHtt 诱导的细胞死亡的关键因素。提出了一个模型,描述了 BimEL 在将 mHtt 诱导的 ER 应激和蛋白酶体功能障碍与细胞死亡联系起来的作用。