Bett John S, Cook Casey, Petrucelli Leonard, Bates Gillian P
Department of Medical and Molecular Genetics, King's College London School of Medicine, King's College London, London, United Kingdom.
PLoS One. 2009;4(4):e5128. doi: 10.1371/journal.pone.0005128. Epub 2009 Apr 8.
Impairment of the ubiquitin-proteasome system (UPS) has long been considered an attractive hypothesis to explain the selective dysfunction and death of neurons in polyglutamine disorders such as Huntington's disease (HD). The fact that inclusion bodies in HD mouse models and patient brains are rich in ubiquitin and proteasome components suggests that the UPS may be hindered directly or indirectly by inclusion bodies or their misfolded monomeric or oligomeric precursors. However, studies into UPS function in various polyglutamine disease models have yielded conflicting results, suggesting mutant polyglutamine tracts may exert different effects on the UPS depending on protein context, expression level, subcellular localisation and cell-type. To investigate UPS function in a well-characterised mouse model of HD, we have crossed R6/2 HD mice with transgenic UPS reporter mice expressing the GFPu construct. The GFPu construct comprises GFP fused to a constitutive degradation signal (CL-1) that promotes its rapid degradation under conditions of a healthy UPS. Using a combination of immunoblot analysis, fluorescence and immunofluorescence microscopy studies, we found that steady-state GFPu levels were not detectably different between R6/2 and non-R6/2 brain. We observed no correlation between inclusion body formation and GFPu accumulation, suggesting no direct relationship between protein aggregation and global UPS inhibition in R6/2 mice. These findings suggest that while certain branches of the UPS can be impaired by mutant polyglutamine proteins, such proteins do not necessarily cause total blockade of UPS-dependent degradation. It is therefore likely that the relationship between mutant polyglutamine proteins and the UPS is more complex than originally anticipated.
长期以来,泛素 - 蛋白酶体系统(UPS)功能受损一直被认为是一个有吸引力的假说来解释多聚谷氨酰胺疾病(如亨廷顿舞蹈症,HD)中神经元的选择性功能障碍和死亡。HD小鼠模型和患者大脑中的包涵体富含泛素和蛋白酶体成分,这一事实表明UPS可能被包涵体或其错误折叠的单体或寡聚体前体直接或间接阻碍。然而,对各种多聚谷氨酰胺疾病模型中UPS功能的研究结果相互矛盾,表明突变的多聚谷氨酰胺片段可能根据蛋白质背景、表达水平、亚细胞定位和细胞类型对UPS产生不同影响。为了在一个特征明确的HD小鼠模型中研究UPS功能,我们将R6/2 HD小鼠与表达GFPu构建体的转基因UPS报告小鼠进行了杂交。GFPu构建体由与组成型降解信号(CL - 1)融合的GFP组成,在健康的UPS条件下促进其快速降解。通过免疫印迹分析、荧光和免疫荧光显微镜研究相结合,我们发现R6/2和非R6/2大脑之间的稳态GFPu水平没有可检测到的差异。我们没有观察到包涵体形成与GFPu积累之间的相关性,这表明R6/2小鼠中蛋白质聚集与整体UPS抑制之间没有直接关系。这些发现表明,虽然UPS的某些分支可能会被突变的多聚谷氨酰胺蛋白损害,但这些蛋白不一定会导致UPS依赖性降解的完全阻断。因此,突变的多聚谷氨酰胺蛋白与UPS之间的关系可能比最初预期的更为复杂。