title: The diversities of PrP(Sc)  distributions and pathologic changes in various brain regions from a Chinese patient with G114V genetic CJD.
abstract: Human genetic Creutzfeldt-Jakob disease (gCJD; one of the prion diseases) is caused by point mutations and insertions in the prion protein gene (PRNP). Previously we have reported a Chinese gCJD case with a substitution of valine (V) for glycine (G) at codon 114. To investigate the detailed pathogenic and pathologic characteristics of G114V gCJD, 10 different brain regions were thoroughly analyzed. PrP-specific Western blots and immunohistochemical (IHC) assays identified larger amounts of PrP(Sc)  in the regions of brain cortex. Assays of the transcriptions of PrP-specific mRNA by RT-PCR and real-time PCR showed comparable levels in 10 brain regions. In line with the distribution of PrP(Sc) , typical vacuolations in brains, markedly in four cortex regions, were detected. Contrast to the distributing features of spongiform and of PrP(Sc) , massive gliosis was detected in all brain regions by GFAP-specific IHC tests. Moreover, two-dimensional gel immunoblots found three major sets of PrP(Sc)  spots, indicating that PrP(Sc)  in brain tissues was a mixture of molecules with different biochemical properties. The data here provide the pathogenic and neuropathological features of G114V gCJD.
authors: State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Changping District, Beijing, China.
authors: Qi
authors: Q
authors: Shi
authors: Bao-Yun
authors: BY
authors: Zhang
authors: Chen
authors: C
authors: Gao
authors: Jun
authors: J
authors: Han
authors: Gui-Rong
authors: GR
authors: Wang
authors: Cao
authors: C
authors: Chen
authors: Chan
authors: C
authors: Tian
authors: Xiao-Ping
authors: XP
authors: Dong
mesh_terms: D044466:Asian People; D015153:Blotting, Western; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D015180:Electrophoresis, Gel, Two-Dimensional; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D009154:Mutation; D018620:PrPSc Proteins / Q000032:analysis* / Q000235:genetics / Q000378:metabolism; D012333:RNA, Messenger / Q000032:analysis; D060888:Real-Time Polymerase Chain Reaction; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D018620:PrPSc Proteins; D012333:RNA, Messenger