Fondazione IRCCS Istituto Neurologico Carlo Besta, Division of Neurology 5-Neuropathology, 20133 Milan, Italy.
Biomolecules. 2020 Mar 5;10(3):405. doi: 10.3390/biom10030405.
Prion diseases are neurodegenerative and invariably fatal conditions that affect humans and animals. In particular, Creutzfeldt-Jakob disease (CJD) and bovine spongiform encephalopathy (BSE) are paradigmatic forms of human and animal prion diseases, respectively. Human exposure to BSE through contaminated food caused the appearance of the new variant form of CJD (vCJD). These diseases are caused by an abnormal prion protein named PrP (or prion), which accumulates in the brain and leads to the onset of the disease. Their definite diagnosis can be formulated only at post-mortem after biochemical and neuropathological identification of PrP. Thanks to the advent of an innovative technique named protein misfolding cyclic amplification (PMCA), traces of PrP, undetectable with the standard diagnostic techniques, were found in peripheral tissues of patients with vCJD, even at preclinical stages. The technology is currently being used in specialized laboratories and can be exploited for helping physicians in formulating an early and definite diagnosis of vCJD using peripheral tissues. However, this assay is currently unable to detect prions associated with the sporadic CJD (sCJD) forms, which are more frequent than vCJD. This review will focus on the most recent advances and applications of PMCA in the field of vCJD and other human prion disease diagnosis.
朊病毒病是影响人类和动物的神经退行性和致命性疾病。特别是克雅氏病（CJD）和牛海绵状脑病（BSE）分别是人类和动物朊病毒病的典型形式。人类通过受污染的食物接触 BSE 导致了新型变异型克雅氏病（vCJD）的出现。这些疾病是由一种名为 PrP（或朊病毒）的异常朊病毒蛋白引起的，该蛋白在大脑中积累，导致疾病的发生。只有在死后通过生化和神经病理学鉴定 PrP 后，才能明确诊断这些疾病。由于一种名为蛋白质错误折叠循环扩增（PMCA）的创新技术的出现，即使在临床前阶段，也在 vCJD 患者的外周组织中发现了用标准诊断技术无法检测到的 PrP 痕迹。该技术目前正在专门的实验室中使用，并可用于帮助医生使用外周组织对 vCJD 进行早期和明确的诊断。然而，该检测目前无法检测与散发性克雅氏病（sCJD）形式相关的朊病毒，后者比 vCJD 更为常见。本综述将重点介绍 PMCA 在 vCJD 和其他人类朊病毒病诊断领域的最新进展和应用。
