Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein

Background Sporadic Creutzfeldt-Jakob disease is classified according to the genotype at polymorphic codon 129 (M or V) of the prion protein (PrP) gene and the type (1 or 2) of abnormal isoform of PrP ($ PrP^{Sc} $) in the brain. The most complicated entity in the current classification system is MV...
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Autor*in:	Kobayashi, Atsushi [verfasserIn] Iwasaki, Yasushi Otsuka, Hiroyuki Yamada, Masahito Yoshida, Mari Matsuura, Yuichi Mohri, Shirou Kitamoto, Tetsuyuki

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2013

Schlagwörter:	Creutzfeldt-Jakob disease Prion protein Classification Humanized knock-in mouse

Anmerkung:	© Kobayashi et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (

Übergeordnetes Werk:	Enthalten in: Acta Neuropathologica Communications - London : Biomed Central, 2013, 1(2013), 1 vom: 13. Nov.
Übergeordnetes Werk:	volume:1 ; year:2013 ; number:1 ; day:13 ; month:11

Links:	Volltext

DOI / URN:	10.1186/2051-5960-1-74

Katalog-ID:	SPR036507482

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520			\|a Background Sporadic Creutzfeldt-Jakob disease is classified according to the genotype at polymorphic codon 129 (M or V) of the prion protein (PrP) gene and the type (1 or 2) of abnormal isoform of PrP ($ PrP^{Sc} $) in the brain. The most complicated entity in the current classification system is MV2, since it shows wide phenotypic variations, i.e., MV2 cortical form (MV2C), MV2 with kuru plaques (MV2K), or a mixed form (MV2K + C). To resolve their complicated pathogenesis, we performed a comprehensive analysis of the three MV2 subgroups based on histopathological, molecular, and transmission properties. Results In histopathological and molecular analyses, MV2C showed close similarity to MM2 cortical form (MM2C) and could be easily discriminated from the other MV2 subgroups. By contrast, MV2K and MV2K + C showed the same molecular type and the same transmission type, and the sole difference between MV2K and MV2K + C was the presence of cortical pathology characteristic of MV2C/MM2C. The remarkable molecular feature of MV2K or MV2K + C was a mixture of type 2 $ PrP^{Sc} $ and intermediate type $ PrP^{Sc} $, which shows intermediate electrophoretic mobility between types 1 and 2 $ PrP^{Sc} $. Modeling experiments using PrP-humanized mice indicated that MV2K contains a mixture of intermediate type $ PrP^{Sc} $ with the 129M genotype (Mi $ PrP^{Sc} $) and type 2 $ PrP^{Sc} $ with the 129V genotype (V2 $ PrP^{Sc} $) that originated from V2 $ PrP^{Sc} $, whereas MV2C + K may also contain type 2 $ PrP^{Sc} $ with the 129M genotype and cortical pathology (M2C $ PrP^{Sc} $) that lacks infectivity to the PrP-humanized mice in addition to Mi and V2 $ PrP^{Sc} $. Conclusions Taken together, the present study suggests that the phenotypic heterogeneity of MV2 stems from their different $ PrP^{Sc} $ origin(s).
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700	1		\|a Yamada, Masahito \|4 aut
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700	1		\|a Matsuura, Yuichi \|4 aut
700	1		\|a Mohri, Shirou \|4 aut
700	1		\|a Kitamoto, Tetsuyuki \|4 aut
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author_variant	a k ak y i yi h o ho m y my m y my y m ym s m sm t k tk
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allfields	10.1186/2051-5960-1-74 doi (DE-627)SPR036507482 (SPR)2051-5960-1-74-e DE-627 ger DE-627 rakwb eng Kobayashi, Atsushi verfasserin aut Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Kobayashi et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Sporadic Creutzfeldt-Jakob disease is classified according to the genotype at polymorphic codon 129 (M or V) of the prion protein (PrP) gene and the type (1 or 2) of abnormal isoform of PrP ($ PrP^{Sc} $) in the brain. The most complicated entity in the current classification system is MV2, since it shows wide phenotypic variations, i.e., MV2 cortical form (MV2C), MV2 with kuru plaques (MV2K), or a mixed form (MV2K + C). To resolve their complicated pathogenesis, we performed a comprehensive analysis of the three MV2 subgroups based on histopathological, molecular, and transmission properties. Results In histopathological and molecular analyses, MV2C showed close similarity to MM2 cortical form (MM2C) and could be easily discriminated from the other MV2 subgroups. By contrast, MV2K and MV2K + C showed the same molecular type and the same transmission type, and the sole difference between MV2K and MV2K + C was the presence of cortical pathology characteristic of MV2C/MM2C. The remarkable molecular feature of MV2K or MV2K + C was a mixture of type 2 $ PrP^{Sc} $ and intermediate type $ PrP^{Sc} $, which shows intermediate electrophoretic mobility between types 1 and 2 $ PrP^{Sc} $. Modeling experiments using PrP-humanized mice indicated that MV2K contains a mixture of intermediate type $ PrP^{Sc} $ with the 129M genotype (Mi $ PrP^{Sc} $) and type 2 $ PrP^{Sc} $ with the 129V genotype (V2 $ PrP^{Sc} $) that originated from V2 $ PrP^{Sc} $, whereas MV2C + K may also contain type 2 $ PrP^{Sc} $ with the 129M genotype and cortical pathology (M2C $ PrP^{Sc} $) that lacks infectivity to the PrP-humanized mice in addition to Mi and V2 $ PrP^{Sc} $. Conclusions Taken together, the present study suggests that the phenotypic heterogeneity of MV2 stems from their different $ PrP^{Sc} $ origin(s). Creutzfeldt-Jakob disease (dpeaa)DE-He213 Prion protein (dpeaa)DE-He213 Classification (dpeaa)DE-He213 Humanized knock-in mouse (dpeaa)DE-He213 Iwasaki, Yasushi aut Otsuka, Hiroyuki aut Yamada, Masahito aut Yoshida, Mari aut Matsuura, Yuichi aut Mohri, Shirou aut Kitamoto, Tetsuyuki aut Enthalten in Acta Neuropathologica Communications London : Biomed Central, 2013 1(2013), 1 vom: 13. Nov. (DE-627)746066465 (DE-600)2715589-4 2051-5960 nnns volume:1 year:2013 number:1 day:13 month:11 https://dx.doi.org/10.1186/2051-5960-1-74 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 1 2013 1 13 11
spelling	10.1186/2051-5960-1-74 doi (DE-627)SPR036507482 (SPR)2051-5960-1-74-e DE-627 ger DE-627 rakwb eng Kobayashi, Atsushi verfasserin aut Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Kobayashi et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Sporadic Creutzfeldt-Jakob disease is classified according to the genotype at polymorphic codon 129 (M or V) of the prion protein (PrP) gene and the type (1 or 2) of abnormal isoform of PrP ($ PrP^{Sc} $) in the brain. The most complicated entity in the current classification system is MV2, since it shows wide phenotypic variations, i.e., MV2 cortical form (MV2C), MV2 with kuru plaques (MV2K), or a mixed form (MV2K + C). To resolve their complicated pathogenesis, we performed a comprehensive analysis of the three MV2 subgroups based on histopathological, molecular, and transmission properties. Results In histopathological and molecular analyses, MV2C showed close similarity to MM2 cortical form (MM2C) and could be easily discriminated from the other MV2 subgroups. By contrast, MV2K and MV2K + C showed the same molecular type and the same transmission type, and the sole difference between MV2K and MV2K + C was the presence of cortical pathology characteristic of MV2C/MM2C. The remarkable molecular feature of MV2K or MV2K + C was a mixture of type 2 $ PrP^{Sc} $ and intermediate type $ PrP^{Sc} $, which shows intermediate electrophoretic mobility between types 1 and 2 $ PrP^{Sc} $. Modeling experiments using PrP-humanized mice indicated that MV2K contains a mixture of intermediate type $ PrP^{Sc} $ with the 129M genotype (Mi $ PrP^{Sc} $) and type 2 $ PrP^{Sc} $ with the 129V genotype (V2 $ PrP^{Sc} $) that originated from V2 $ PrP^{Sc} $, whereas MV2C + K may also contain type 2 $ PrP^{Sc} $ with the 129M genotype and cortical pathology (M2C $ PrP^{Sc} $) that lacks infectivity to the PrP-humanized mice in addition to Mi and V2 $ PrP^{Sc} $. Conclusions Taken together, the present study suggests that the phenotypic heterogeneity of MV2 stems from their different $ PrP^{Sc} $ origin(s). Creutzfeldt-Jakob disease (dpeaa)DE-He213 Prion protein (dpeaa)DE-He213 Classification (dpeaa)DE-He213 Humanized knock-in mouse (dpeaa)DE-He213 Iwasaki, Yasushi aut Otsuka, Hiroyuki aut Yamada, Masahito aut Yoshida, Mari aut Matsuura, Yuichi aut Mohri, Shirou aut Kitamoto, Tetsuyuki aut Enthalten in Acta Neuropathologica Communications London : Biomed Central, 2013 1(2013), 1 vom: 13. Nov. (DE-627)746066465 (DE-600)2715589-4 2051-5960 nnns volume:1 year:2013 number:1 day:13 month:11 https://dx.doi.org/10.1186/2051-5960-1-74 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 1 2013 1 13 11
allfields_unstemmed	10.1186/2051-5960-1-74 doi (DE-627)SPR036507482 (SPR)2051-5960-1-74-e DE-627 ger DE-627 rakwb eng Kobayashi, Atsushi verfasserin aut Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Kobayashi et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Sporadic Creutzfeldt-Jakob disease is classified according to the genotype at polymorphic codon 129 (M or V) of the prion protein (PrP) gene and the type (1 or 2) of abnormal isoform of PrP ($ PrP^{Sc} $) in the brain. The most complicated entity in the current classification system is MV2, since it shows wide phenotypic variations, i.e., MV2 cortical form (MV2C), MV2 with kuru plaques (MV2K), or a mixed form (MV2K + C). To resolve their complicated pathogenesis, we performed a comprehensive analysis of the three MV2 subgroups based on histopathological, molecular, and transmission properties. Results In histopathological and molecular analyses, MV2C showed close similarity to MM2 cortical form (MM2C) and could be easily discriminated from the other MV2 subgroups. By contrast, MV2K and MV2K + C showed the same molecular type and the same transmission type, and the sole difference between MV2K and MV2K + C was the presence of cortical pathology characteristic of MV2C/MM2C. The remarkable molecular feature of MV2K or MV2K + C was a mixture of type 2 $ PrP^{Sc} $ and intermediate type $ PrP^{Sc} $, which shows intermediate electrophoretic mobility between types 1 and 2 $ PrP^{Sc} $. Modeling experiments using PrP-humanized mice indicated that MV2K contains a mixture of intermediate type $ PrP^{Sc} $ with the 129M genotype (Mi $ PrP^{Sc} $) and type 2 $ PrP^{Sc} $ with the 129V genotype (V2 $ PrP^{Sc} $) that originated from V2 $ PrP^{Sc} $, whereas MV2C + K may also contain type 2 $ PrP^{Sc} $ with the 129M genotype and cortical pathology (M2C $ PrP^{Sc} $) that lacks infectivity to the PrP-humanized mice in addition to Mi and V2 $ PrP^{Sc} $. Conclusions Taken together, the present study suggests that the phenotypic heterogeneity of MV2 stems from their different $ PrP^{Sc} $ origin(s). Creutzfeldt-Jakob disease (dpeaa)DE-He213 Prion protein (dpeaa)DE-He213 Classification (dpeaa)DE-He213 Humanized knock-in mouse (dpeaa)DE-He213 Iwasaki, Yasushi aut Otsuka, Hiroyuki aut Yamada, Masahito aut Yoshida, Mari aut Matsuura, Yuichi aut Mohri, Shirou aut Kitamoto, Tetsuyuki aut Enthalten in Acta Neuropathologica Communications London : Biomed Central, 2013 1(2013), 1 vom: 13. Nov. (DE-627)746066465 (DE-600)2715589-4 2051-5960 nnns volume:1 year:2013 number:1 day:13 month:11 https://dx.doi.org/10.1186/2051-5960-1-74 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 1 2013 1 13 11
allfieldsGer	10.1186/2051-5960-1-74 doi (DE-627)SPR036507482 (SPR)2051-5960-1-74-e DE-627 ger DE-627 rakwb eng Kobayashi, Atsushi verfasserin aut Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Kobayashi et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Sporadic Creutzfeldt-Jakob disease is classified according to the genotype at polymorphic codon 129 (M or V) of the prion protein (PrP) gene and the type (1 or 2) of abnormal isoform of PrP ($ PrP^{Sc} $) in the brain. The most complicated entity in the current classification system is MV2, since it shows wide phenotypic variations, i.e., MV2 cortical form (MV2C), MV2 with kuru plaques (MV2K), or a mixed form (MV2K + C). To resolve their complicated pathogenesis, we performed a comprehensive analysis of the three MV2 subgroups based on histopathological, molecular, and transmission properties. Results In histopathological and molecular analyses, MV2C showed close similarity to MM2 cortical form (MM2C) and could be easily discriminated from the other MV2 subgroups. By contrast, MV2K and MV2K + C showed the same molecular type and the same transmission type, and the sole difference between MV2K and MV2K + C was the presence of cortical pathology characteristic of MV2C/MM2C. The remarkable molecular feature of MV2K or MV2K + C was a mixture of type 2 $ PrP^{Sc} $ and intermediate type $ PrP^{Sc} $, which shows intermediate electrophoretic mobility between types 1 and 2 $ PrP^{Sc} $. Modeling experiments using PrP-humanized mice indicated that MV2K contains a mixture of intermediate type $ PrP^{Sc} $ with the 129M genotype (Mi $ PrP^{Sc} $) and type 2 $ PrP^{Sc} $ with the 129V genotype (V2 $ PrP^{Sc} $) that originated from V2 $ PrP^{Sc} $, whereas MV2C + K may also contain type 2 $ PrP^{Sc} $ with the 129M genotype and cortical pathology (M2C $ PrP^{Sc} $) that lacks infectivity to the PrP-humanized mice in addition to Mi and V2 $ PrP^{Sc} $. Conclusions Taken together, the present study suggests that the phenotypic heterogeneity of MV2 stems from their different $ PrP^{Sc} $ origin(s). Creutzfeldt-Jakob disease (dpeaa)DE-He213 Prion protein (dpeaa)DE-He213 Classification (dpeaa)DE-He213 Humanized knock-in mouse (dpeaa)DE-He213 Iwasaki, Yasushi aut Otsuka, Hiroyuki aut Yamada, Masahito aut Yoshida, Mari aut Matsuura, Yuichi aut Mohri, Shirou aut Kitamoto, Tetsuyuki aut Enthalten in Acta Neuropathologica Communications London : Biomed Central, 2013 1(2013), 1 vom: 13. Nov. (DE-627)746066465 (DE-600)2715589-4 2051-5960 nnns volume:1 year:2013 number:1 day:13 month:11 https://dx.doi.org/10.1186/2051-5960-1-74 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 1 2013 1 13 11
allfieldsSound	10.1186/2051-5960-1-74 doi (DE-627)SPR036507482 (SPR)2051-5960-1-74-e DE-627 ger DE-627 rakwb eng Kobayashi, Atsushi verfasserin aut Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Kobayashi et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Sporadic Creutzfeldt-Jakob disease is classified according to the genotype at polymorphic codon 129 (M or V) of the prion protein (PrP) gene and the type (1 or 2) of abnormal isoform of PrP ($ PrP^{Sc} $) in the brain. The most complicated entity in the current classification system is MV2, since it shows wide phenotypic variations, i.e., MV2 cortical form (MV2C), MV2 with kuru plaques (MV2K), or a mixed form (MV2K + C). To resolve their complicated pathogenesis, we performed a comprehensive analysis of the three MV2 subgroups based on histopathological, molecular, and transmission properties. Results In histopathological and molecular analyses, MV2C showed close similarity to MM2 cortical form (MM2C) and could be easily discriminated from the other MV2 subgroups. By contrast, MV2K and MV2K + C showed the same molecular type and the same transmission type, and the sole difference between MV2K and MV2K + C was the presence of cortical pathology characteristic of MV2C/MM2C. The remarkable molecular feature of MV2K or MV2K + C was a mixture of type 2 $ PrP^{Sc} $ and intermediate type $ PrP^{Sc} $, which shows intermediate electrophoretic mobility between types 1 and 2 $ PrP^{Sc} $. Modeling experiments using PrP-humanized mice indicated that MV2K contains a mixture of intermediate type $ PrP^{Sc} $ with the 129M genotype (Mi $ PrP^{Sc} $) and type 2 $ PrP^{Sc} $ with the 129V genotype (V2 $ PrP^{Sc} $) that originated from V2 $ PrP^{Sc} $, whereas MV2C + K may also contain type 2 $ PrP^{Sc} $ with the 129M genotype and cortical pathology (M2C $ PrP^{Sc} $) that lacks infectivity to the PrP-humanized mice in addition to Mi and V2 $ PrP^{Sc} $. Conclusions Taken together, the present study suggests that the phenotypic heterogeneity of MV2 stems from their different $ PrP^{Sc} $ origin(s). Creutzfeldt-Jakob disease (dpeaa)DE-He213 Prion protein (dpeaa)DE-He213 Classification (dpeaa)DE-He213 Humanized knock-in mouse (dpeaa)DE-He213 Iwasaki, Yasushi aut Otsuka, Hiroyuki aut Yamada, Masahito aut Yoshida, Mari aut Matsuura, Yuichi aut Mohri, Shirou aut Kitamoto, Tetsuyuki aut Enthalten in Acta Neuropathologica Communications London : Biomed Central, 2013 1(2013), 1 vom: 13. Nov. (DE-627)746066465 (DE-600)2715589-4 2051-5960 nnns volume:1 year:2013 number:1 day:13 month:11 https://dx.doi.org/10.1186/2051-5960-1-74 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 1 2013 1 13 11
language	English
source	Enthalten in Acta Neuropathologica Communications 1(2013), 1 vom: 13. Nov. volume:1 year:2013 number:1 day:13 month:11
sourceStr	Enthalten in Acta Neuropathologica Communications 1(2013), 1 vom: 13. Nov. volume:1 year:2013 number:1 day:13 month:11
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topic_facet	Creutzfeldt-Jakob disease Prion protein Classification Humanized knock-in mouse
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authorswithroles_txt_mv	Kobayashi, Atsushi @@aut@@ Iwasaki, Yasushi @@aut@@ Otsuka, Hiroyuki @@aut@@ Yamada, Masahito @@aut@@ Yoshida, Mari @@aut@@ Matsuura, Yuichi @@aut@@ Mohri, Shirou @@aut@@ Kitamoto, Tetsuyuki @@aut@@
publishDateDaySort_date	2013-11-13T00:00:00Z
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This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background Sporadic Creutzfeldt-Jakob disease is classified according to the genotype at polymorphic codon 129 (M or V) of the prion protein (PrP) gene and the type (1 or 2) of abnormal isoform of PrP ($ PrP^{Sc} $) in the brain. The most complicated entity in the current classification system is MV2, since it shows wide phenotypic variations, i.e., MV2 cortical form (MV2C), MV2 with kuru plaques (MV2K), or a mixed form (MV2K + C). To resolve their complicated pathogenesis, we performed a comprehensive analysis of the three MV2 subgroups based on histopathological, molecular, and transmission properties. Results In histopathological and molecular analyses, MV2C showed close similarity to MM2 cortical form (MM2C) and could be easily discriminated from the other MV2 subgroups. By contrast, MV2K and MV2K + C showed the same molecular type and the same transmission type, and the sole difference between MV2K and MV2K + C was the presence of cortical pathology characteristic of MV2C/MM2C. The remarkable molecular feature of MV2K or MV2K + C was a mixture of type 2 $ PrP^{Sc} $ and intermediate type $ PrP^{Sc} $, which shows intermediate electrophoretic mobility between types 1 and 2 $ PrP^{Sc} $. 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author	Kobayashi, Atsushi
spellingShingle	Kobayashi, Atsushi misc Creutzfeldt-Jakob disease misc Prion protein misc Classification misc Humanized knock-in mouse Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein
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topic_title	Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein Creutzfeldt-Jakob disease (dpeaa)DE-He213 Prion protein (dpeaa)DE-He213 Classification (dpeaa)DE-He213 Humanized knock-in mouse (dpeaa)DE-He213
topic	misc Creutzfeldt-Jakob disease misc Prion protein misc Classification misc Humanized knock-in mouse
topic_unstemmed	misc Creutzfeldt-Jakob disease misc Prion protein misc Classification misc Humanized knock-in mouse
topic_browse	misc Creutzfeldt-Jakob disease misc Prion protein misc Classification misc Humanized knock-in mouse
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title	Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein
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title_full	Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein
author_sort	Kobayashi, Atsushi
journal	Acta Neuropathologica Communications
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author_browse	Kobayashi, Atsushi Iwasaki, Yasushi Otsuka, Hiroyuki Yamada, Masahito Yoshida, Mari Matsuura, Yuichi Mohri, Shirou Kitamoto, Tetsuyuki
container_volume	1
format_se	Elektronische Aufsätze
author-letter	Kobayashi, Atsushi
doi_str_mv	10.1186/2051-5960-1-74
title_sort	deciphering the pathogenesis of sporadic creutzfeldt-jakob disease with codon 129 m/v and type 2 abnormal prion protein
title_auth	Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein
abstract	Background Sporadic Creutzfeldt-Jakob disease is classified according to the genotype at polymorphic codon 129 (M or V) of the prion protein (PrP) gene and the type (1 or 2) of abnormal isoform of PrP ($ PrP^{Sc} $) in the brain. The most complicated entity in the current classification system is MV2, since it shows wide phenotypic variations, i.e., MV2 cortical form (MV2C), MV2 with kuru plaques (MV2K), or a mixed form (MV2K + C). To resolve their complicated pathogenesis, we performed a comprehensive analysis of the three MV2 subgroups based on histopathological, molecular, and transmission properties. Results In histopathological and molecular analyses, MV2C showed close similarity to MM2 cortical form (MM2C) and could be easily discriminated from the other MV2 subgroups. By contrast, MV2K and MV2K + C showed the same molecular type and the same transmission type, and the sole difference between MV2K and MV2K + C was the presence of cortical pathology characteristic of MV2C/MM2C. The remarkable molecular feature of MV2K or MV2K + C was a mixture of type 2 $ PrP^{Sc} $ and intermediate type $ PrP^{Sc} $, which shows intermediate electrophoretic mobility between types 1 and 2 $ PrP^{Sc} $. Modeling experiments using PrP-humanized mice indicated that MV2K contains a mixture of intermediate type $ PrP^{Sc} $ with the 129M genotype (Mi $ PrP^{Sc} $) and type 2 $ PrP^{Sc} $ with the 129V genotype (V2 $ PrP^{Sc} $) that originated from V2 $ PrP^{Sc} $, whereas MV2C + K may also contain type 2 $ PrP^{Sc} $ with the 129M genotype and cortical pathology (M2C $ PrP^{Sc} $) that lacks infectivity to the PrP-humanized mice in addition to Mi and V2 $ PrP^{Sc} $. Conclusions Taken together, the present study suggests that the phenotypic heterogeneity of MV2 stems from their different $ PrP^{Sc} $ origin(s). © Kobayashi et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
abstractGer	Background Sporadic Creutzfeldt-Jakob disease is classified according to the genotype at polymorphic codon 129 (M or V) of the prion protein (PrP) gene and the type (1 or 2) of abnormal isoform of PrP ($ PrP^{Sc} $) in the brain. The most complicated entity in the current classification system is MV2, since it shows wide phenotypic variations, i.e., MV2 cortical form (MV2C), MV2 with kuru plaques (MV2K), or a mixed form (MV2K + C). To resolve their complicated pathogenesis, we performed a comprehensive analysis of the three MV2 subgroups based on histopathological, molecular, and transmission properties. Results In histopathological and molecular analyses, MV2C showed close similarity to MM2 cortical form (MM2C) and could be easily discriminated from the other MV2 subgroups. By contrast, MV2K and MV2K + C showed the same molecular type and the same transmission type, and the sole difference between MV2K and MV2K + C was the presence of cortical pathology characteristic of MV2C/MM2C. The remarkable molecular feature of MV2K or MV2K + C was a mixture of type 2 $ PrP^{Sc} $ and intermediate type $ PrP^{Sc} $, which shows intermediate electrophoretic mobility between types 1 and 2 $ PrP^{Sc} $. Modeling experiments using PrP-humanized mice indicated that MV2K contains a mixture of intermediate type $ PrP^{Sc} $ with the 129M genotype (Mi $ PrP^{Sc} $) and type 2 $ PrP^{Sc} $ with the 129V genotype (V2 $ PrP^{Sc} $) that originated from V2 $ PrP^{Sc} $, whereas MV2C + K may also contain type 2 $ PrP^{Sc} $ with the 129M genotype and cortical pathology (M2C $ PrP^{Sc} $) that lacks infectivity to the PrP-humanized mice in addition to Mi and V2 $ PrP^{Sc} $. Conclusions Taken together, the present study suggests that the phenotypic heterogeneity of MV2 stems from their different $ PrP^{Sc} $ origin(s). © Kobayashi et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
abstract_unstemmed	Background Sporadic Creutzfeldt-Jakob disease is classified according to the genotype at polymorphic codon 129 (M or V) of the prion protein (PrP) gene and the type (1 or 2) of abnormal isoform of PrP ($ PrP^{Sc} $) in the brain. The most complicated entity in the current classification system is MV2, since it shows wide phenotypic variations, i.e., MV2 cortical form (MV2C), MV2 with kuru plaques (MV2K), or a mixed form (MV2K + C). To resolve their complicated pathogenesis, we performed a comprehensive analysis of the three MV2 subgroups based on histopathological, molecular, and transmission properties. Results In histopathological and molecular analyses, MV2C showed close similarity to MM2 cortical form (MM2C) and could be easily discriminated from the other MV2 subgroups. By contrast, MV2K and MV2K + C showed the same molecular type and the same transmission type, and the sole difference between MV2K and MV2K + C was the presence of cortical pathology characteristic of MV2C/MM2C. The remarkable molecular feature of MV2K or MV2K + C was a mixture of type 2 $ PrP^{Sc} $ and intermediate type $ PrP^{Sc} $, which shows intermediate electrophoretic mobility between types 1 and 2 $ PrP^{Sc} $. Modeling experiments using PrP-humanized mice indicated that MV2K contains a mixture of intermediate type $ PrP^{Sc} $ with the 129M genotype (Mi $ PrP^{Sc} $) and type 2 $ PrP^{Sc} $ with the 129V genotype (V2 $ PrP^{Sc} $) that originated from V2 $ PrP^{Sc} $, whereas MV2C + K may also contain type 2 $ PrP^{Sc} $ with the 129M genotype and cortical pathology (M2C $ PrP^{Sc} $) that lacks infectivity to the PrP-humanized mice in addition to Mi and V2 $ PrP^{Sc} $. Conclusions Taken together, the present study suggests that the phenotypic heterogeneity of MV2 stems from their different $ PrP^{Sc} $ origin(s). © Kobayashi et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
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title_short	Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein
url	https://dx.doi.org/10.1186/2051-5960-1-74
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author2	Iwasaki, Yasushi Otsuka, Hiroyuki Yamada, Masahito Yoshida, Mari Matsuura, Yuichi Mohri, Shirou Kitamoto, Tetsuyuki
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