Research ArticlePRION DISEASES

Detection of prions in blood from patients with variant Creutzfeldt-Jakob disease

See allHide authors and affiliations

Science Translational Medicine  21 Dec 2016:
Vol. 8, Issue 370, pp. 370ra183
DOI: 10.1126/scitranslmed.aaf6188

You are currently viewing the abstract.

View Full Text

Log in to view the full text

Log in through your institution

Log in through your institution

A new blood test for prion diseases

Prions are the proteinaceous infectious agents responsible for various animal and human diseases. The transmission of bovine spongiform encephalopathy into humans has led to a new illness, termed variant Creutzfeldt-Jakob disease (vCJD). Currently, the number of people infected by this new disease is unknown, which is a major concern because it has been shown that preclinical carriers of vCJD prions can transmit the disease by blood transfusion. Now, Concha-Marambio et al. report the development of a biochemical test to detect vCJD prions in blood with 100% sensitivity and specificity. Availability of a highly efficient blood test for vCJD is important to minimize further transmission of the disease, to increase blood safety, and to allow early diagnosis of this disease.


Human prion diseases are infectious and invariably fatal neurodegenerative diseases. They include sporadic Creutzfeldt-Jakob disease (sCJD), the most common form, and variant CJD (vCJD), which is caused by interspecies transmission of prions from cattle infected by bovine spongiform encephalopathy. Development of a biochemical assay for the sensitive, specific, early, and noninvasive detection of prions (PrPSc) in the blood of patients affected by prion disease is a top medical priority to increase the safety of the blood supply. vCJD has already been transmitted from human to human by blood transfusion, and the number of asymptomatic carriers of vCJD in the U.K. alone is estimated to be 1 in 2000 people. We used the protein misfolding cyclic amplification (PMCA) technique to analyze blood samples from 14 cases of vCJD and 153 controls, including patients affected by sCJD and other neurodegenerative or neurological disorders as well as healthy subjects. Our results showed that PrPSc could be detected with 100% sensitivity and specificity in blood samples from vCJD patients. Detection was possible in any of the blood fractions analyzed and could be done with as little as a few microliters of sample volume. The PrPSc concentration in blood was estimated to be ~0.5 pg/ml. Our findings suggest that PMCA may be useful for premortem noninvasive diagnosis of vCJD and to identify prion contamination of the blood supply. Further studies are needed to fully validate the technology.

View Full Text

Stay Connected to Science Translational Medicine