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The diversities of PrP Sc distributions and pathologic changes in various brain regions from a Chinese patient with G114V genetic CJD
Author(s) -
Shi Qi,
Zhang BaoYun,
Gao Chen,
Han Jun,
Wang GuiRong,
Chen Cao,
Tian Chan,
Dong XiaoPing
Publication year - 2012
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/j.1440-1789.2011.01237.x
Subject(s) - prnp , immunohistochemistry , gliosis , biology , microbiology and biotechnology , pathology , human brain , blot , gene , genotype , genetics , medicine , neuroscience
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.