Prion infectious proteins detected in ocular tissues of people with rare brain disease



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The researchers found misfolded prion proteins in the eyes of 11 patients with Creutzfeldt-Jakob disease. The discovery raised concerns about possible infection with eye exam material and cadaveric corneal transplants. ( National Institute of Allergy and Infectious Diseases )

A new study reveals that poorly assembled prion proteins that destroy the brain have been found in the eyes of 11 infected patients.

The researchers hope this discovery could lead to an early diagnosis of Creutzfeldt-Jakob disease or CJD, the most common prion disease.

The results were discussed in the newspaper mbio.

Prion proteins present in patients' eyes

Researchers from the National Institute of Health, as well as scientists from the University of California at San Diego and from the University of California at San Franciso, examined the eyes of deceased patients with CJD. Using RT-QuIC, a method also used to diagnose prion disease, they tested the presence of misfolded prion proteins in the eye tissue of 11 patients.

They found that the retina had the highest prion level of the 11 patients. In addition, researchers also found traces of prions in the cornea, lens and muscles around and in the eye. This is the first study to detect prions in these parts of the eye.

Fear of prion disease

The results also raised concerns about the possibility of patients being infected with prion disease. The disease appears spontaneously most of the time when a prion protein suddenly turns into a misfolded form, affecting the other proteins that surround it.

For some, it's genetic. However, it can also be contagious. Prion disease can be transmitted from person to person or from one animal to another.

The concern with the new discoveries is the possibility that eye examinations designed for repeated use have been contaminated. About 40% of people with sporadic CJD develop eye problems and therefore have regular eye exams.

In addition, people with prion disease but who have not been diagnosed could transmit CJD to another person through a cadaveric corneal transplant. The study revealed that there are already two or three possible cases of disease transmission.

CJD is fatal. The disease can also be difficult to diagnose because its symptoms are similar to those of other more common diseases.

The researchers said they would continue to evaluate ways to use accessible eye fluids and components to diagnose CJD. They also hope that the method used in the study can be applied to other neurodegenerative diseases.

"If the RT-QuIC method can be used to amplify other aggregated proteins, this could lead to advances in the diagnosis of Alzheimer's disease, Parkinson's disease and related diseases," he said. said Michael Geschwind, co-author of the study.

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