A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis and rate of progression

MedRxiv : the Preprint Server for Health Sciences
P. J. NorsworthyE. A. Vire


Sporadic Creutzfeldt-Jakob disease (sCJD) presents as a rapidly progressive dementia which is usually fatal within six months. No blood tests are currently available for diagnosis or disease monitoring. Here, we profile blood microRNA (miRNA) expression in sCJD. Small RNA-sequencing of 57 sCJD patients and 50 healthy controls reveals differential expression of hsa-let-7i-5p, hsa-miR-16-5p, hsa-miR-93-5p, hsa-miR-106b-3p and hsa-let-7d-3p. Downregulation of hsa-let-7i-5p, hsa-miR-16-5p and hsa-miR-93-5p in sCJD replicates in an independent cohort using quantitative PCR, with concomitant upregulation of four of their mRNA targets. This miRNA signature discriminates patients with sCJD from Alzheimers disease patients. Finally, longitudinal monitoring of 15 sCJD patients shows that the rate of decline in miRNA expression significantly correlates with rate of disease progression. These findings highlight novel molecular alterations in human prion disease outside the central nervous system which can provide information about diagnosis, disease progression, and improve mechanistic understanding of sCJD.

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