PMCA Applications for Prion Detection in Peripheral Tissues of Patients with Variant Creutzfeldt-Jakob Disease

settings Order Article Reprints Open AccessReview PMCA Applications for Prion Detection in Peripheral Tissues of Patients with Variant Creutzfeldt-Jakob Disease by Giorgio Giaccone and Fabio Moda * [ORCID] Fondazione IRCCS Istituto Neurologico Carlo Besta, Division of Neurology 5—Neuropathology, 20133 Milan, Italy * Author to whom correspondence should be addressed. Biomolecules 2020, 10(3), 405; https://doi.org/10.3390/biom10030405 Submission received: 13 February 2020 / Revised: 2 March 2020 / Accepted: 5 March 2020 / Published: 5 March 2020 (This article belongs to the Special Issue Prion Disease Biomarkers: Recent Advances) Download keyboard_arrow_down Versions Notes Abstract 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 PrPSc (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 PrPSc. Thanks to the advent of an innovative technique named protein misfolding cyclic amplification (PMCA), traces of PrPSc, 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.