Institute for Neurodegenerative Diseases, University of California, San Francisco, San Francisco, California 94143, USA.
Cold Spring Harb Perspect Biol. 2011 Jan 1;3(1):a006833. doi: 10.1101/cshperspect.a006833.
The discovery of infectious proteins, denoted prions, was unexpected. After much debate over the chemical basis of heredity, resolution of this issue began with the discovery that DNA, not protein, from pneumococcus was capable of genetically transforming bacteria (Avery et al. 1944). Four decades later, the discovery that a protein could mimic viral and bacterial pathogens with respect to the transmission of some nervous system diseases (Prusiner 1982) met with great resistance. Overwhelming evidence now shows that Creutzfeldt-Jakob disease (CJD) and related disorders are caused by prions. The prion diseases are characterized by neurodegeneration and lethality. In mammals, prions reproduce by recruiting the normal, cellular isoform of the prion protein (PrP(C)) and stimulating its conversion into the disease-causing isoform (PrP(Sc)). PrP(C) and PrP(Sc) have distinct conformations: PrP(C) is rich in α-helical content and has little β-sheet structure, whereas PrP(Sc) has less α-helical content and is rich in β-sheet structure (Pan et al. 1993). The conformational conversion of PrP(C) to PrP(Sc) is the fundamental event underlying prion diseases. In this article, we provide an introduction to prions and the diseases they cause.
传染性蛋白质(朊病毒)的发现出人意料。在对遗传的化学基础进行了长时间的争论之后,这个问题的解决始于发现肺炎球菌的 DNA(而非蛋白质)能够使细菌发生遗传转化(Avery 等人,1944 年)。四十年后,人们发现一种蛋白质可以在某些神经系统疾病的传播方面模拟病毒和细菌病原体(Prusiner,1982 年),这一发现引起了极大的抵制。现在压倒性的证据表明,克雅氏病(CJD)和相关疾病是由朊病毒引起的。朊病毒疾病的特征是神经退行性变和致命性。在哺乳动物中,朊病毒通过招募朊病毒蛋白(PrP(C))的正常细胞同工型并刺激其转化为致病同工型(PrP(Sc))来进行繁殖。PrP(C)和 PrP(Sc)具有不同的构象:PrP(C)富含α-螺旋结构,β-折叠结构较少,而 PrP(Sc)α-螺旋结构较少,富含β-折叠结构(Pan 等人,1993 年)。PrP(C)向 PrP(Sc)的构象转换是朊病毒疾病的根本事件。在本文中,我们将介绍朊病毒及其引起的疾病。