Characteristic CSF Prion Seeding Efficiency in Humans with Prion Diseases
| Autor: | Saima Zafar, Franziska Kuhn, Maria Cramm, André Karch, Daniela Varges, Alex Raeber, Inga Zerr, Matthias Schmitz, Eva Mitrova, Bjoern Schroeder |
|---|---|
| Jazyk: | angličtina |
| Předmět: |
Male
Time Factors pathology [Encephalopathy Bovine Spongiform] animal diseases Scrapie medicine.disease_cause Spinal Puncture Creutzfeldt-Jakob Syndrome Prion Diseases Cerebrospinal fluid Genotype pathology [Neurons] Age of Onset Aged 80 and over Neurons Mutation genetics [Codon] genetics [Creutzfeldt-Jakob Syndrome] Middle Aged 3. Good health Real-time quaking-induced conversion assay Encephalopathy Bovine Spongiform cerebrospinal fluid [Prions] Neurology metabolism [Neurons] pathology [Prion Diseases] Female Adult Endpoint Determination Prions Encephalopathy Neuroscience (miscellaneous) Biology Insomnia Fatal Familial Article PRNP Young Adult Cellular and Molecular Neuroscience genetics [Encephalopathy Bovine Spongiform] Premortem test ddc:570 genetics [Prion Diseases] medicine Humans Codon Aged pathology [Creutzfeldt-Jakob Syndrome] Creutzfeldt-Jakob disease Prion protein medicine.disease Virology nervous system diseases Relative fluorescence units genetics [Insomnia Fatal Familial] cerebrospinal fluid [Prion Diseases] |
| Zdroj: | Molecular Neurobiology Molecular neurobiology 51(1), 396-405 (2014). doi:10.1007/s12035-014-8709-6 |
| ISSN: | 0893-7648 |
| DOI: | 10.1007/s12035-014-8709-6 |
| Popis: | The development of in vitro amplification systems allows detecting femtomolar amounts of prion protein scrapie (PrPSc) in human cerebrospinal fluid (CSF). We performed a CSF study to determine the effects of prion disease type, codon 129 genotype, PrPSc type, and other disease-related factors on the real-time quaking-induced conversion (RT-QuIC) response. We analyzed times to 10,000 relative fluorescence units, areas under the curve and the signal maximum of RT-QuIC response as seeding parameters of interest. Interestingly, type of prion disease (sporadic vs. genetic) and the PRNP mutation (E200K vs. V210I and FFI), codon 129 genotype, and PrPSc type affected RT-QuIC response. In genetic forms, type of mutation showed the strongest effect on the observed outcome variables. In sporadic CJD, MM1 patients displayed a higher RT-QuIC signal maximum compared to MV1 and VV1. Age and gender were not associated with RT-QuIC signal, but patients with a short disease course showed a higher seeding efficiency of the RT-QuIC response. This study demonstrated that PrPSc characteristics in the CSF of human prion disease patients are associated with disease subtypes and rate of decline as defined by disease duration. Electronic supplementary material The online version of this article (doi:10.1007/s12035-014-8709-6) contains supplementary material, which is available to authorized users. |
| Databáze: | OpenAIRE |
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