title: Global transcriptional profiling of the postmortem brain of a patient             with G114V genetic Creutzfeldt-Jakob disease.
abstract: Familial or genetic Creutzfeldt-Jakob disease (fCJD or gCJD) is an inherent             human prion disease caused by mutation of the prion protein gene (PRNP). In the             present study, global expression patterns of the parietal cortex from a patient             with G114V gCJD were analyzed using the Affymetrix Human Genome U133+ 2.0 chip             with a commercial normal human parietal cortex RNA pool as a normal control. In             total, 8,774 genes showed differential expression; among them 2,769 genes were             upregulated and 6,005 genes were downregulated. The reliability of the results             was confirmed using real-time RT-PCR assays. The most differentially expressed             genes (DEGs) were involved in transcription regulation, ion transport, transcription,             cell adhesion, and signal transduction. The genes associated with gliosis were             upregulated and the genes marked for neurons were downregulated, while the transcription             of the PRNP gene remained unaltered. A total of 169 different pathways exhibited             significant changes in the brain of G114V gCJD. The most significantly regulated             pathways included Alzheimer's and Parkinson's disease, oxidative phosphorylation,             regulation of actin cytoskeleton, MAPK signaling and proteasome, which have previously             been linked to prion diseases. In addition, we found some pathways that have rarely             been explored in regards to prion diseases that were also significantly altered             in G114V gCJD, such as axon guidance, gap junction and purine metabolism. The             majority of the genes in the 10 most altered pathways were downregulated. The             data of the present study provide useful insights into the pathogenesis of G114V             gCJD and potential biomarkers for diagnostic and therapeutic purposes.
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, Beijing 102206, PR China.
authors: Chan
authors: C
authors: Tian
authors: Di
authors: D
authors: Liu
authors: Chen
authors: C
authors: Chen
authors: Yin
authors: Y
authors: Xu
authors: Han-Shi
authors: HS
authors: Gong
authors: Cao
authors: C
authors: Chen
authors: Qi
authors: Q
authors: Shi
authors: Bao-Yun
authors: BY
authors: Zhang
authors: Jun
authors: J
authors: Han
authors: Xiao-Ping
authors: XP
authors: Dong
mesh_terms: D001921:Brain / Q000166:cytology*; D002448:Cell Adhesion / Q000235:genetics; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology*; D005260:Female; D020869:Gene Expression Profiling; D005911:Gliosis / Q000235:genetics; D006801:Humans; D017136:Ion Transport / Q000235:genetics; D008875:Middle Aged; D020928:Mitogen-Activated Protein Kinases / Q000235:genetics; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D020928:Mitogen-Activated Protein Kinases