title: PrP mRNA and protein expression in brain and PrP(c) in CSF in Creutzfeldt-Jakob disease MM1 and VV2.
abstract: Creutzfeldt-Jakob disease (CJD) is a heterogenic neurodegenerative disorder associated with abnormal post-translational processing of cellular prion protein (PrP(c)). CJD displays distinctive clinical and pathological features which correlate with the genotype at the codon 129 (methionine or valine: M or V respectively) in the prion protein gene and with size of the protease-resistant core of the abnormal prion protein PrP(sc) (type 1: 20/21 kDa and type 2: 19 kDa). MM1 and VV2 are the most common sporadic CJD (sCJD) subtypes. PrP mRNA expression levels in the frontal cortex and cerebellum are reduced in sCJD in a form subtype-dependent. Total PrP protein levels and PrP(sc) levels in the frontal cortex and cerebellum accumulate differentially in sCJD MM1 and sCJD VV2 with no relation between PrP(sc) deposition and spongiform degeneration and neuron loss, but with microgliosis, and IL6 and TNF-α response. In the CSF, reduced PrP(c), the only form present in this compartment, occurs in sCJD MM1 and VV2. PrP mRNA expression is also reduced in the frontal cortex in advanced stages of Alzheimer disease, Lewy body disease, progressive supranuclear palsy, and frontotemporal lobe degeneration, but PrP(c) levels in brain varies from one disease to another. Reduced PrP(c) levels in CSF correlate with PrP mRNA expression in brain, which in turn reflects severity of degeneration in sCJD.
authors.affiliation: Institute of Neuropathology; IDIBELL-University Hospital Bellvitge; University of Barcelona; Hospitalet de Llobregat; Barcelona, Spain; CIBERNED (Network Center for Biomedical Research of Neurodegenerative Diseases); Institute Carlos III; Ministry of Health; Madrid, Spain; Department of Neurology; Clinical Dementia Center and DZNE; University Medical School; Georg-August University; Göttingen, Germany.
authors.forename: Franc
authors.initials: F
authors.lastname: Llorens
authors.affiliation: Institute of Neuropathology; IDIBELL-University Hospital Bellvitge; University of Barcelona; Hospitalet de Llobregat; Barcelona, Spain; CIBERNED (Network Center for Biomedical Research of Neurodegenerative Diseases); Institute Carlos III; Ministry of Health; Madrid, Spain.
authors.forename: Belén
authors.initials: B
authors.lastname: Ansoleaga
authors.affiliation: Institute of Neuropathology; IDIBELL-University Hospital Bellvitge; University of Barcelona; Hospitalet de Llobregat; Barcelona, Spain; CIBERNED (Network Center for Biomedical Research of Neurodegenerative Diseases); Institute Carlos III; Ministry of Health; Madrid, Spain.
authors.forename: Paula
authors.initials: P
authors.lastname: Garcia-Esparcia
authors.affiliation: Department of Neurology; Clinical Dementia Center and DZNE; University Medical School; Georg-August University; Göttingen, Germany.
authors.forename: Saima
authors.initials: S
authors.lastname: Zafar
authors.affiliation: CJD-Unit and Alzheimer disease and Other Cognitive Disorders Unit; Department of Neurology; Hospital Clínic; Barcelona, Spain.
authors.forename: Oriol
authors.initials: O
authors.lastname: Grau-Rivera
authors.affiliation: Institute of Neuropathology; IDIBELL-University Hospital Bellvitge; University of Barcelona; Hospitalet de Llobregat; Barcelona, Spain; CIBERNED (Network Center for Biomedical Research of Neurodegenerative Diseases); Institute Carlos III; Ministry of Health; Madrid, Spain.
authors.forename: Irene
authors.initials: I
authors.lastname: López-González
authors.affiliation: Institute of Neuropathology; IDIBELL-University Hospital Bellvitge; University of Barcelona; Hospitalet de Llobregat; Barcelona, Spain; CIBERNED (Network Center for Biomedical Research of Neurodegenerative Diseases); Institute Carlos III; Ministry of Health; Madrid, Spain.
authors.forename: Rosi
authors.initials: R
authors.lastname: Blanco
authors.affiliation: Institute of Neuropathology; IDIBELL-University Hospital Bellvitge; University of Barcelona; Hospitalet de Llobregat; Barcelona, Spain; CIBERNED (Network Center for Biomedical Research of Neurodegenerative Diseases); Institute Carlos III; Ministry of Health; Madrid, Spain.
authors.forename: Margarita
authors.initials: M
authors.lastname: Carmona
authors.affiliation: CJD-Unit and Alzheimer disease and Other Cognitive Disorders Unit; Department of Neurology; Hospital Clínic; Barcelona, Spain; Department of Immunology; Hospital Clinic; Barcelona, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Yagüe
authors.affiliation: General Subdirectorate of Surveillance and Response to Emergencies in Public Health; Department of Public Health in Catalonia; Barcelona, Spain.
authors.forename: Carlos
authors.initials: C
authors.lastname: Nos
authors.affiliation: CIBERNED (Network Center for Biomedical Research of Neurodegenerative Diseases); Institute Carlos III; Ministry of Health; Madrid, Spain; Molecular and Cellular Neurobiotechnology; Catalonian Institute for Bioengineering (IBEC); Parc Científic de Barcelona; Barcelona, Spain; Department of Cell Biology; University of Barcelona; Barcelona, Spain.
authors.forename: José Antonio
authors.initials: JA
authors.lastname: Del Río
authors.affiliation: Neurological Tissue Bank of the Biobanc-Hospital; Clínic-Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS); Barcelona, Spain.
authors.forename: Ellen
authors.initials: E
authors.lastname: Gelpí
authors.affiliation: Department of Neurology; Clinical Dementia Center and DZNE; University Medical School; Georg-August University; Göttingen, Germany.
authors.forename: Inga
authors.initials: I
authors.lastname: Zerr
authors.affiliation: Institute of Neuropathology; IDIBELL-University Hospital Bellvitge; University of Barcelona; Hospitalet de Llobregat; Barcelona, Spain; CIBERNED (Network Center for Biomedical Research of Neurodegenerative Diseases); Institute Carlos III; Ministry of Health; Madrid, Spain.
authors.forename: Isidre
authors.initials: I
authors.lastname: Ferrer
mesh_terms: D007562:Creutzfeldt-Jakob Syndrome / Q000134:cerebrospinal fluid* / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005625:Frontal Lobe / Q000378:metabolism / Q000473:pathology*; D005786:Gene Expression Regulation; D005838:Genotype; D006801:Humans; D018621:PrPC Proteins / Q000134:cerebrospinal fluid* / Q000235:genetics; D011328:Prions / Q000134:cerebrospinal fluid / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics*
chemical_list: D018621:PrPC Proteins; D011328:Prions; D012333:RNA, Messenger
keywords: Creutzfeldt-Jakob disease; brain; cerebrospinal fluid; mRNA; neurodegenerative diseases; prion protein
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