Open AccessSporadic C reutzfeldt– J akob Disease MM1+2C and MM 1 are Identical in Transmission Properties
Author(s) -
Kobayashi Atsushi,
Matsuura Yuichi,
Iwaki Toru,
Iwasaki Yasushi,
Yoshida Mari,
Takahashi Hitoshi,
Murayama Shigeo,
Takao Masaki,
Kato Shinsuke,
Yamada Masahito,
Mohri Shirou,
Kitamoto Tetsuyuki
Publication year - 2016
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/bpa.12264
Subject(s) - prnp , creutzfeldt jakob syndrome , prion protein , phenotype , gene , pathology , transmission (telecommunications) , microbiology and biotechnology , chemistry , biology , disease , medicine , genetics , engineering , electrical engineering
The genotype (methionine, M or valine, V ) at polymorphic codon 129 of the PRNP gene and the type (1 or 2) of abnormal prion protein in the brain are the major determinants of the clinicopathological features of sporadic C reutzfeldt– J akob disease ( CJD ), thus providing molecular basis for classification of sporadic CJD , that is, MM 1, MM 2, MV 1, MV 2, VV 1 or VV 2. In addition to these “pure” cases, “mixed” cases presenting mixed neuropathological and biochemical features have also been recognized. The most frequently observed mixed form is the co‐occurrence of MM 1 and MM 2, namely MM 1+2. However, it has remained elusive whether MM 1+2 could be a causative origin of dura mater graft‐associated CJD ( dCJD ), one of the largest subgroups of iatrogenic CJD . To test this possibility, we performed transmission experiments of MM 1+2 prions and a systematic neuropathological examination of dCJD patients in the present study. The transmission properties of the MM 1+2 prions were identical to those of MM 1 prions because MM 2 prions lacked transmissibility. In addition, the neuropathological characteristics of MM 2 were totally absent in dCJD patients examined. These results suggest that MM 1+2 can be a causative origin of dCJD and causes neuropathological phenotype similar to that of MM 1.