Codon 129 polymorphism and the E200K mutation do not affect the cellular prion protein isoform composition in the cerebrospinal fluid from patients with Creutzfeldt-Jakob disease

2010 ◽  
Vol 31 (11) ◽  
pp. 2024-2031 ◽  
Author(s):  
Matthias Schmitz ◽  
Markus Schlomm ◽  
Badrul Hasan ◽  
Michael Beekes ◽  
Eva Mitrova ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Prion Protein ◽  
Cellular Prion Protein ◽  
E200k Mutation ◽  
Jakob Disease ◽  
Protein Isoform ◽  
Codon 129

A novel phenotype in familial Creutzfeldt-Jakob disease: Prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein

1999 ◽  
Vol 45 (6) ◽  
pp. 812-816 ◽  
Author(s):  
Johannes A. Hainfellner ◽  
Piero Parchi ◽  
Tetsuyuki Kitamoto ◽  
Christa Jarius ◽  
Pierluigi Gambetti ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
E200k Mutation ◽  
Jakob Disease ◽  
Codon 129

scholarly journals Extracellular Protein Aggregates Colocalization and Neuronal Dystrophy in Comorbid Alzheimer’s and Creutzfeldt–Jakob Disease: A Micromorphological Pilot Study on 20 Brains

2021 ◽  
Vol 22 (4) ◽  
pp. 2099
Author(s):  
Nikol Jankovska ◽  
Tomas Olejar ◽  
Radoslav Matej
Keyword(s):  
Prion Protein ◽  
Fluorescent Microscopy ◽  
Amyloid Β ◽  
Amyloid Β Protein ◽  
Β Protein ◽  
Key Characteristics ◽  
Jakob Disease ◽  
Immunohistochemical Methods ◽  
Confocal Fluorescent Microscopy ◽  
Codon 129

Alzheimer’s disease (AD) and sporadic Creutzfeldt–Jakob disease (sCJD) are both characterized by extracellular pathologically conformed aggregates of amyloid proteins—amyloid β-protein (Aβ) and prion protein (PrPSc), respectively. To investigate the potential morphological colocalization of Aβ and PrPSc aggregates, we examined the hippocampal regions (archicortex and neocortex) of 20 subjects with confirmed comorbid AD and sCJD using neurohistopathological analyses, immunohistochemical methods, and confocal fluorescent microscopy. Our data showed that extracellular Aβ and PrPSc aggregates tended to be, in most cases, located separately, and “compound” plaques were relatively rare. We observed PrPSc plaque-like structures in the periphery of the non-compact parts of Aβ plaques, as well as in tau protein-positive dystrophic structures. The AD ABC score according to the NIA-Alzheimer’s association guidelines, and prion protein subtype with codon 129 methionine–valine (M/V) polymorphisms in sCJD, while representing key characteristics of these diseases, did not correlate with the morphology of the Aβ/PrPSc co-aggregates. However, our data showed that PrPSc aggregation could dominate during co-aggregation with non-compact Aβ in the periphery of Aβ plaques.

Codon 129 Polymorphism Specific Cerebrospinal Fluid Proteome Pattern in Sporadic Creutzfeldt−Jakob Disease and the Implication of Glycolytic Enzymes in Prion-Induced Pathology

2010 ◽  
Vol 9 (11) ◽  
pp. 5646-5657 ◽  
Author(s):  
Joanna Gawinecka ◽  
Jana Dieks ◽  
Abdul R. Asif ◽  
Julie Carimalo ◽  
Uta Heinemann ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Glycolytic Enzymes ◽  
Jakob Disease ◽  
Codon 129

scholarly journals Sporadic Creutzfeldt-Jakob Disease: Prion Pathology in Medulla Oblongata—Possible Routes of Infection and Host Susceptibility

2015 ◽  
Vol 2015 ◽  
pp. 1-9 ◽  
Author(s):  
Diego Iacono ◽  
Sergio Ferrari ◽  
Matteo Gelati ◽  
Gianluigi Zanusso ◽  
Sara Mariotto ◽  
...  
Keyword(s):  
Prion Protein ◽  
Environmental Exposure ◽  
Phenotypic Variability ◽  
Host Susceptibility ◽  
Motor Nucleus ◽  
Host Genotype ◽  
Dorsal Motor Nucleus ◽  
Jakob Disease ◽  
Medullary Nuclei ◽  
Codon 129

Sporadic Creutzfeldt-Jakob disease (sCJD), the most frequent human prion disorder, is characterized by remarkable phenotypic variability, which is influenced by the conformation of the pathologic prion protein and the methionine/valine polymorphic codon 129 of the prion protein gene. While the etiology of sCJD remains unknown, it has been hypothesized that environmental exposure to prions might occur through conjunctival/mucosal contact, oral ingestion, inhalation, or simultaneous involvement of the olfactory and enteric systems. We studied 21 subjects with definite sCJD to assess neuropathological involvement of the dorsal motor nucleus of the vagus and other medullary nuclei and to evaluate possible associations with codon 129 genotype and prion protein conformation. The present data show that prion protein deposition was detected in medullary nuclei of distinct sCJD subtypes, either valine homozygous or heterozygous at codon 129. These findings suggest that an “environmental exposure” might occur, supporting the hypothesis that external sources of contamination could contribute to sCJD in susceptible hosts. Furthermore, these novel data could shed the light on possible causes of sCJD through a “triple match” hypothesis that identify environmental exposure, host genotype, and direct exposure of specific anatomical regions as possible pathogenetic factors.

Cerebrospinal Fluid Biomarker-Based Diagnosis of Sporadic Creutzfeldt-Jakob Disease: A Validation Study for Previously Established Cutoffs

2017 ◽  
Vol 43 (1-2) ◽  
pp. 71-80 ◽  
Author(s):  
Franc Llorens ◽  
André Karch ◽  
Ewa Golanska ◽  
Matthias Schmitz ◽  
Peter Lange ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Negative Correlation ◽  
Disease Duration ◽  
Population Sample ◽  
Clinical Accuracy ◽  
Jakob Disease ◽  
And Control ◽  
Fluid Biomarker ◽  
Prnp Codon ◽  
Codon 129

Background: Several biomarkers have been proposed to discriminate sporadic Creutzfeldt-Jakob disease (sCJD) from other dementias and control cases. However, their clinical accuracy depends on the PRNP codon 129 genotype, leaving it unclear how well established markers behave in untested conditions. Methods: We analyzed 14-3-3, tau, p-tau levels, and the p-tau/tau ratio in a population sample collected from Polish hospitals including nondementia, dementia, and definite sCJD cases and validated their parameters according to previously established cutoffs. Additionally, the correlation between biomarkers and disease duration as well as the influence of the PRNP129 polymorphism are reported. Results: The tau levels and p-tau/tau ratios differed considerably between sCJD and clinically characterized non-CJD cases (p < 0.001). p-tau was only elevated in sCJD when compared to cases without dementia (p < 0.05). Tau and the p-tau/tau ratio showed a sensitivity of 95 and 100%, respectively, in detecting sCJD cases. A negative correlation between tau levels and disease duration, but not the timing of lumbar puncture was observed. Conclusion: The present findings confirmed the value of the p-tau/tau ratio as a robust sCJD biomarker and suggest a role for tau as prognostic marker.

scholarly journals The neuropathology of kuru and variant Creutzfeldt–Jakob disease

2008 ◽  
Vol 363 (1510) ◽  
pp. 3685-3687 ◽  
Author(s):  
Catriona A McLean
Keyword(s):  
Incubation Period ◽  
Prion Protein ◽  
Spongiform Encephalopathies ◽  
Genotype Analysis ◽  
Route Of Infection ◽  
Jakob Disease ◽  
Codon 129 ◽  
Selection Of

A comparison of the pathological profiles of two spongiform encephalopathies with a similar presumptive route of infection was performed. Archival kuru and recent variant Creutzfeldt–Jakob disease (vCJD) cases reveal distinct lesional differences, particularly with respect to prion protein, suggesting that the strain of agent is important in determining the phenotype. Genotype analysis of the polymorphism on codon 129 reveals (in conjunction with updated information from more kuru cases) that all three genotypes (VV, MV and MM (where M is methionine and V is valine)) are detected in kuru with some preference for MM homozygosity. The presence of valine does not therefore appear to determine peripheral selection of PrP CJD . vCJD remains restricted to date to MM homozygosity on codon 129. It remains to be determined whether this genotype is dictating a shorter incubation period.

scholarly journals Codon 129 polymorphism of prion protein gene in is not a risk factor for Alzheimer's disease

2013 ◽  
Vol 71 (7) ◽  
pp. 423-427 ◽  
Author(s):  
Jerusa Smid ◽  
Michele Christine Landemberger ◽  
Valéria Santoro Bahia ◽  
Vilma Regina Martins ◽  
Ricardo Nitrini
Keyword(s):  
Risk Factor ◽  
Cognitive Performance ◽  
Prion Protein ◽  
Protein Gene ◽  
Apoe Genotype ◽  
Genotype Distribution ◽  
Prion Protein Gene ◽  
Apolipoprotein E Gene ◽  
Jakob Disease ◽  
Codon 129

Interaction of prion protein and amyloid-b oligomers has been demonstrated recently. Homozygosity at prion protein gene (PRNP) codon 129 is associated with higher risk for Creutzfeldt-Jakob disease. This polymorphism has been addressed as a possible risk factor in Alzheimer disease (AD).ObjectiveTo describe the association between codon 129 polymorphisms and AD.MethodsWe investigated the association of codon 129 polymorphism of PRNP in 99 AD patients and 111 controls, and the association between this polymorphism and cognitive performance. Other polymorphisms of PRNP and additive effect of apolipoprotein E gene (ApoE) were evaluated.ResultsCodon 129 genotype distribution in AD 45.5% methionine (MM), 42.2% methionine valine (MV), 12.1% valine (VV); and 39.6% MM, 50.5% MV, 9.9% VV among controls (p>0.05). There were no differences of cognitive performance concerning codon 129. Stratification according to ApoE genotype did not reveal difference between groups.ConclusionCodon 129 polymorphism is not a risk factor for AD in Brazilian patients.

scholarly journals Complete Penetrance of Creutzfeldt-Jakob Disease in Libyan Jews Carrying the E200K Mutation in the Prion Protein Gene

1995 ◽  
Vol 1 (6) ◽  
pp. 607-613 ◽  
Author(s):  
Serena Spudich ◽  
James A. Mastrianni ◽  
Margaret Wrensch ◽  
Ruth Gabizon ◽  
Zeev Meiner ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Complete Penetrance ◽  
E200k Mutation ◽  
Jakob Disease

Polymorphism at codon 129 ofPRNP affects the phenotypic expression of Creutzfeldt-Jakob disease linked to E200K mutation

2000 ◽  
Vol 48 (2) ◽  
pp. 269-270 ◽  
Author(s):  
Gianfranco Puoti ◽  
Giacomina Rossi ◽  
Giorgio Giaccone ◽  
Tazeen Awan ◽  
Patricia M.-J. Lievens ◽  
...  
Keyword(s):  
Phenotypic Expression ◽  
E200k Mutation ◽  
Jakob Disease ◽  
Codon 129
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