{"created":"2023-05-15T16:35:44.002724+00:00","id":8699,"links":{},"metadata":{"_buckets":{"deposit":"83cacca0-1885-4c79-a57e-fd9420257464"},"_deposit":{"created_by":2,"id":"8699","owners":[2],"pid":{"revision_id":0,"type":"depid","value":"8699"},"status":"published"},"_oai":{"id":"oai:nagasaki-u.repo.nii.ac.jp:00008699","sets":["10:11"]},"author_link":["35178","35173","35181","35185","35175","35174","35183","35182","35176","35184","35179","35177","35180"],"item_2_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2013-01-25","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageStart":"e54915","bibliographicVolumeNumber":"8","bibliographic_titles":[{"bibliographic_title":"PLoS ONE"}]}]},"item_2_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Introduction: The definitive diagnosis of genetic prion diseases (gPrD) requires pathological confirmation. To date, diagnosis has relied upon the finding of the biomarkers 14-3-3 protein and total tau (t-tau) protein in the cerebrospinal fluid (CSF), but many researchers have reported that these markers are not sufficiently elevated in gPrD, especially in Gerstmann-Sträussler-Scheinker syndrome (GSS). We recently developed a new in vitro amplification technology, designated \"real-time quaking-induced conversion (RT-QUIC)\", to detect the abnormal form of prion protein in CSF from sporadic Creutzfeldt-Jakob disease (sCJD) patients. In the present study, we aimed to investigate the presence of biomarkers and evaluate RT-QUIC assay in patients with gPrD, as the utility of RT-QUIC as a diagnostic tool in gPrD has yet to be determined. Method/Principal Findings: 56 CSF samples were obtained from gPrD patients, including 20 cases of GSS with P102L mutation, 12 cases of fatal familial insomnia (FFI; D178N), and 24 cases of genetic CJD (gCJD), comprising 22 cases with E200K mutation and 2 with V203I mutation. We subjected all CSF samples to RT-QUIC assay, analyzed 14-3-3 protein by Western blotting, and measured t-tau protein using an ELISA kit. The detection sensitivities of RT-QUIC were as follows: GSS (78%), FFI (100%), gCJD E200K (87%), and gCJD V203I (100%). On the other hand the detection sensitivities of biomarkers were considerably lower: GSS (11%), FFI (0%), gCJD E200K (73%), and gCJD V203I (67%). Thus, RT-QUIC had a much higher detection sensitivity compared with testing for biomarkers, especially in patients with GSS and FFI. Conclusion/Significance: RT-QUIC assay is more sensitive than testing for biomarkers in gPrD patients. RT-QUIC method would thus be useful as a diagnostic tool when the patient or the patient's family does not agree to genetic testing, or to confirm the diagnosis in the presence of a positive result for genetic testing.","subitem_description_type":"Abstract"}]},"item_2_description_63":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"PLoS ONE, 8(1), e54915; 2013","subitem_description_type":"Other"}]},"item_2_publisher_33":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Public Library of Science"}]},"item_2_relation_12":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1371/journal.pone.0054915","subitem_relation_type_select":"DOI"}}]},"item_2_rights_13":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"© 2013 Sano et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited."}]},"item_2_source_id_8":{"attribute_name":"EISSN","attribute_value_mlt":[{"subitem_source_identifier":"19326203","subitem_source_identifier_type":"ISSN"}]},"item_2_version_type_16":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Sano, Kazunori"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Satoh, Katsuya"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Atarashi, Ryuichiro"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Takashima, Hiroshi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Iwasaki, Yasushi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yoshida, Mari"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Sanjo, Nobuo"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Murai, Hiroyuki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Mizusawa, Hidehiro"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Schmitz, Matthias"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Zerr, Inga"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kim, Yong-Sun"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nishida, Noriyuki"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-12-21"}],"displaytype":"detail","filename":"PLoS8_54915.pdf","filesize":[{"value":"209.5 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"PLoS8_54915.pdf","url":"https://nagasaki-u.repo.nii.ac.jp/record/8699/files/PLoS8_54915.pdf"},"version_id":"800faca5-a9f2-4956-8435-709b1212bc62"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Early Detection of Abnormal Prion Protein in Genetic Human Prion Diseases Now Possible Using Real-Time QUIC Assay","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Early Detection of Abnormal Prion Protein in Genetic Human Prion Diseases Now Possible Using Real-Time QUIC Assay"}]},"item_type_id":"2","owner":"2","path":["11"],"pubdate":{"attribute_name":"公開日","attribute_value":"2013-04-24"},"publish_date":"2013-04-24","publish_status":"0","recid":"8699","relation_version_is_last":true,"title":["Early Detection of Abnormal Prion Protein in Genetic Human Prion Diseases Now Possible Using Real-Time QUIC Assay"],"weko_creator_id":"2","weko_shared_id":-1},"updated":"2023-05-16T02:00:33.398479+00:00"}