The diversities of PrPSc distributions and pathologic changes in various brain regions from a Chinese patient with G114V genetic CJD

Authors

  • Qi Shi,

    1. 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
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  • Bao-Yun Zhang,

    1. 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
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  • Chen Gao,

    1. 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
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  • Jun Han,

    1. 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
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  • Gui-Rong Wang,

    1. 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
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  • Cao Chen,

    1. 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
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  • Chan Tian,

    1. 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
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  • Xiao-Ping Dong

    Corresponding author
    1. 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
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Xiao-Ping Dong, State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, 155 Changbai Road, Changping District, Beijing 102206, People's Republic of China. Email: dongxp238@sina.com

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 PrPSc 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 PrPSc, typical vacuolations in brains, markedly in four cortex regions, were detected. Contrast to the distributing features of spongiform and of PrPSc, massive gliosis was detected in all brain regions by GFAP-specific IHC tests. Moreover, two-dimensional gel immunoblots found three major sets of PrPSc spots, indicating that PrPSc in brain tissues was a mixture of molecules with different biochemical properties. The data here provide the pathogenic and neuropathological features of G114V gCJD.

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