The detection of prions in the blood of patients with variant Creutzfeldt–Jakob disease could lead to a noninvasive diagnosis prior to symptoms and a way to identify prion contamination of the donated blood supply, according to researchers at McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth).

The results of the research, led by senior author Claudio Soto, MD, professor in the Department of Neurology and the director of the George and Cynthia Mitchell Center for Alzheimer’s disease and Related Brain Disorders at UTHealth, were published in the journal Science Translational Medicine. First author of the paper is Luis Concha–Marambio, senior research assistant in the Department of Neurology at McGovern Medical School.

“Our findings, which need to be confirmed in further studies, suggest that our method of detection could be useful for the noninvasive diagnosis of this disease in pre–symptomatic individuals,” Soto said. “Early diagnosis would allow any potential therapy to be given before substantial brain damage has occurred. In the case of the blood supply, availability of a procedure to efficiently detect small quantities of the infectious agent would allow removal of blood units contaminated with prions, so that new cases can be minimized substantially.”

Soto’s team analyzed blood samples from 14 cases of vCJD and 153 controls, which included patients affected by sCJD and other neurodegenerative or neurological disorders as well as healthy subjects. To detect the prions, the team used a protein misfolding cyclic amplification assay, invented in Soto’s lab, which mimics the prion replication process in vitro that occurs in prion disease.

The results showed that prions could be detected with 100 percent sensitivity and specificity in blood samples from vCJD patients.