Whitehead Institute for Biomedical Research, Howard Hughes Medical Institute, MIT, Cambridge, MA, USA.
Prion. 2009 Oct-Dec;3(4):240-9. doi: 10.4161/pri.3.4.10135. Epub 2009 Oct 16.
Although it has been known for more than twenty years that an aberrant conformation of the prion protein (PrP) is the causative agent in prion diseases, the role of PrP in normal biology is undetermined. Numerous studies have suggested a protective function for PrP, including protection from ischemic and excitotoxic lesions and several apoptotic insults. On the other hand, many observations have suggested the contrary, linking changes in PrP localization or domain structure--independent of infectious prion conformation--to severe neuronal damage. Surprisingly, a recent report suggests that PrP is a receptor for toxic oligomeric species of a-beta, a pathogenic fragment of the amyloid precursor protein, and likely contributes to disease pathogenesis of Alzheimer disease. We sought to access the role of PrP in diverse neurological disorders. First, we confirmed that PrP confers protection against ischemic damage using an acute stroke model, a well characterized association. After ischemic insult, PrP knockouts had dramatically increased infarct volumes and decreased behavioral performance compared to controls. To examine the potential of PrP's neuroprotective or neurotoxic properties in the context of other pathologies, we deleted PrP from several transgenic models of neurodegenerative disease. Deletion of PrP did not substantially alter the disease phenotypes of mouse models of Parkinson disease or tauopathy. Deletion of PrP in one of two Huntington disease models tested, R6/2, modestly slowed motor deterioration as measured on an accelerating rotarod but otherwise did not alter other major features of the disease. Finally, transgenic overexpression of PrP did not exacerbate the Huntington motor phenotype. These results suggest that PrP has a context-dependent neuroprotective function and does not broadly contribute to the disease models tested herein.
尽管人们已经知道二十多年了,朊病毒蛋白(PrP)的异常构象是朊病毒疾病的致病因子,但 PrP 在正常生物学中的作用尚未确定。许多研究表明 PrP 具有保护功能,包括对缺血和兴奋性损伤以及几种细胞凋亡损伤的保护作用。另一方面,许多观察结果表明相反的情况,将 PrP 定位或结构域结构的变化与严重的神经元损伤联系起来,而这些变化与传染性朊病毒构象无关。令人惊讶的是,最近的一份报告表明,PrP 是一种毒性寡聚体的受体,一种淀粉样前体蛋白的致病片段,并且可能有助于阿尔茨海默病的发病机制。我们试图研究 PrP 在多种神经疾病中的作用。首先,我们使用急性中风模型证实了 PrP 对缺血损伤具有保护作用,这是一种很好的关联。在缺血性损伤后,与对照组相比,PrP 敲除鼠的梗死体积明显增加,行为表现明显下降。为了研究 PrP 的神经保护或神经毒性特性在其他病理情况下的潜在作用,我们从几种神经退行性疾病的转基因模型中删除了 PrP。在两种亨廷顿病模型之一 R6/2 中删除 PrP 并没有实质性地改变帕金森病或 tauopathy 小鼠模型的疾病表型。在两种亨廷顿病模型之一 R6/2 中删除 PrP 略微减缓了在加速旋转杆上的运动恶化,但其他疾病的主要特征没有改变。最后,PrP 的转基因过表达没有加重亨廷顿病的运动表型。这些结果表明 PrP 具有上下文相关的神经保护功能,并且不会广泛导致本文测试的疾病模型发生变化。