Early Detection of Abnormal Prion Protein in Genetic Human Prion Diseases Now Possible Using Real-Time QUIC Assay

• DOI: 10.1371/journal.pone.0054915
• Publication Date: 2013-01-25T22:18:28Z
• Authors: Kazunori Sano; Katsuya Satoh; Ryuichiro Atarashi; Hiroshi Takashima; Yasushi Iwasaki; Mari Yoshida; Nobuo Sanjo; Hiroyuki Murai; Hidehiro Mizusawa; Matthias Schmitz; Inga Zerr; Yong-Sun Kim; Noriyuki Nishida
• Keywords: Fatal familial insomnia

Introduction The definitive diagnosis of genetic prion diseases (gPrD) requires pathological confirmation. To date, has relied upon the finding biomarkers 14-3-3 protein and total tau (t-tau) in cerebrospinal fluid (CSF), but many researchers have reported that these markers are not sufficiently elevated gPrD, especially Gerstmann-Sträussler-Scheinker syndrome (GSS). We recently developed a new vitro amplification technology, designated "real-time quaking-induced conversion (RT-QUIC)", to detect abnormal form CSF from sporadic Creutzfeldt-Jakob disease (sCJD) patients. In present study, we aimed investigate presence evaluate RT-QUIC assay patients with as utility diagnostic tool gPrD yet be determined. Method/Principal Findings 56 samples were obtained patients, including 20 cases GSS P102L mutation, 12 fatal familial insomnia (FFI; D178N), 24 CJD (gCJD), comprising 22 E200K mutation 2 V203I mutation. subjected all assay, analyzed by Western blotting, measured t-tau using an ELISA kit. detection sensitivities follows: (78%), FFI (100%), gCJD (87%), (100%). On other hand considerably lower: (11%), (0%), (73%), (67%). Thus, had much higher sensitivity compared testing for biomarkers, FFI. Conclusion/Significance is more sensitive than method would thus useful when patient or patient's family does agree testing, confirm positive result testing.