Creutzfeldt-Jakob disease (CJD) is a neurodegenerative brain disorder otherwise known as a prion disease.
Early symptoms include memory problems, behavioural changes, poor coordination and visual disturbances. Later symptoms include dementia, involuntary movements, blindness and coma.
CJD is fatal and can only be definitively diagnosed through a brain biopsy or at autopsy.
In new research published in Communications Biology, a team led by Professor Andrew Hill and Dr Lesley Cheng have identified cell particles in the blood, known as extracellular vesicles, that may help to diagnose CJD.
“Extracellular vesicles are particles that are secreted by cells,” explains Dr Cheng. “They end up in the bloodstream where they can be collected and isolated. They are packed with protein and genetic cargo, and contain markers that can indicate particular disease states.”
The team examined the genetic cargo in extracellular vesicles and developed a molecular profile that correlated with the changes to pathology in the brain.
“We confirmed that extracellular vesicles could be used as a ‘liquid biopsy’ of the brain to help diagnose CJD,” says Professor Hill.
This disease profile identifies molecular patterns over the course of disease progression, but also provides valuable information about molecular changes that occur during clinically silent periods of disease.
“We hope that our findings lead to a blood-based diagnostic test which can identify prion diseases such as CJD, in their early stages,” says Professor Hill, “to enable interventional therapies which could slow or halt disease progression.”
Read the paper.
This study was funded by the National Health and Medical Research Council of Australia and the CJD Support Group Network, based in Australia, in memory of Lorraine Seabrook. Dr Cheng was awarded the 2019 CJDSGN Memorial Award in memory of Adrian Chesterton, Norma Crawley and Danilo Banzon.