A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis
Sporadic Creutzfeldt-Jakob disease (sCJD) presents as a rapidly progressive dementia which is usually fatal within six months. No clinical blood tests are available for diagnosis or disease monitoring. Here, we profile blood microRNA (miRNA) expression in sCJD. Sequencing of 57 sCJD patients, and healthy controls reveals differential expression of hsa-let-7i-5p, hsa-miR-16-5p, hsa-miR-93-5p and hsa-miR-106b-3p. Downregulation of hsa-let-7i-5p, hsa-miR-16-5p and hsa-miR-93-5p replicates in an independent cohort using quantitative PCR, with concomitant upregulation of four mRNA targets. Absence of correlation in cross-sectional analysis with clinical phenotypes parallels the lack of association between rate of decline in miRNA expression, and rate of disease progression in a longitudinal cohort of samples from 21 patients. Finally, the miRNA signature shows a high level of accuracy in discriminating sCJD from Alzheimer's disease. These findings highlight molecular alterations in the periphery in sCJD which provide information about differential diagnosis and improve mechanistic understanding of human prion diseases.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:11 |
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| Enthalten in: |
Nature communications - 11(2020), 1 vom: 07. Aug., Seite 3960 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Norsworthy, Penny J [VerfasserIn] |
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| Links: |
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| Themen: |
Biomarkers |
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| Anmerkungen: |
Date Completed 09.09.2020 Date Revised 07.08.2021 published: Electronic Citation Status MEDLINE |
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| doi: |
10.1038/s41467-020-17655-x |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM313449686 |
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| 245 | 1 | 2 | |a A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis |
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| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Sporadic Creutzfeldt-Jakob disease (sCJD) presents as a rapidly progressive dementia which is usually fatal within six months. No clinical blood tests are available for diagnosis or disease monitoring. Here, we profile blood microRNA (miRNA) expression in sCJD. Sequencing of 57 sCJD patients, and healthy controls reveals differential expression of hsa-let-7i-5p, hsa-miR-16-5p, hsa-miR-93-5p and hsa-miR-106b-3p. Downregulation of hsa-let-7i-5p, hsa-miR-16-5p and hsa-miR-93-5p replicates in an independent cohort using quantitative PCR, with concomitant upregulation of four mRNA targets. Absence of correlation in cross-sectional analysis with clinical phenotypes parallels the lack of association between rate of decline in miRNA expression, and rate of disease progression in a longitudinal cohort of samples from 21 patients. Finally, the miRNA signature shows a high level of accuracy in discriminating sCJD from Alzheimer's disease. These findings highlight molecular alterations in the periphery in sCJD which provide information about differential diagnosis and improve mechanistic understanding of human prion diseases | ||
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| 700 | 1 | |a Thompson, Andrew G B |e verfasserin |4 aut | |
| 700 | 1 | |a Mok, Tze H |e verfasserin |4 aut | |
| 700 | 1 | |a Guntoro, Fernando |e verfasserin |4 aut | |
| 700 | 1 | |a Dabin, Luke C |e verfasserin |4 aut | |
| 700 | 1 | |a Nihat, Akin |e verfasserin |4 aut | |
| 700 | 1 | |a Paterson, Ross W |e verfasserin |4 aut | |
| 700 | 1 | |a Schott, Jonathan M |e verfasserin |4 aut | |
| 700 | 1 | |a Collinge, John |e verfasserin |4 aut | |
| 700 | 1 | |a Mead, Simon |e verfasserin |4 aut | |
| 700 | 1 | |a Viré, Emmanuelle A |e verfasserin |4 aut | |
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