A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis

Penny J. Norsworthy, Andrew G. B. Thompson, Tze H. Mok, Fernando Guntoro, Luke C. Dabin, Akin Nihat, Ross W. Paterson, Jonathan M. Schott, John Collinge, Simon Mead () and Emmanuelle A. Viré
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Penny J. Norsworthy: MRC Prion Unit at UCL, UCL Institute of Prion Diseases
Andrew G. B. Thompson: UCL Hospitals NHS Foundation Trust
Tze H. Mok: UCL Hospitals NHS Foundation Trust
Fernando Guntoro: MRC Prion Unit at UCL, UCL Institute of Prion Diseases
Luke C. Dabin: MRC Prion Unit at UCL, UCL Institute of Prion Diseases
Akin Nihat: UCL Hospitals NHS Foundation Trust
Ross W. Paterson: University College London, Queen Square
Jonathan M. Schott: University College London, Queen Square
John Collinge: MRC Prion Unit at UCL, UCL Institute of Prion Diseases
Simon Mead: MRC Prion Unit at UCL, UCL Institute of Prion Diseases
Emmanuelle A. Viré: MRC Prion Unit at UCL, UCL Institute of Prion Diseases

Nature Communications, 2020, vol. 11, issue 1, 1-11

Abstract: Abstract 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.

Date: 2020
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DOI: 10.1038/s41467-020-17655-x

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