JUN 08, 2017 3:29 PM PDT

Predicting Huntington's Disease From Blood

WRITTEN BY: Xuan Pham

Researchers from the University College London announced the first blood biomarker that can predict and track the progression of Huntington’s disease.

Image credit: pixabay.com

Huntington’s disease is a neurodegenerative disorder that is progressive and fatal. In patients with the disease, the huntingtin protein is misfolded and these proteins form clumps in the brain. In turn, these proteinaceous clumps turn into toxic clusters that interfere with the function of neurons and leading to the mental and physical decline in patients. Although there are no cures for Huntington’s yet, early diagnosis could provide patients with more time to seek treatments and manage their disease.

"This is the first time a potential blood biomarker has been identified to track Huntington's disease so strongly," said the study's senior author, Dr Edward Wild, professor at the University College London’s Institute of Neurology.

Whereas current tests for Huntington’s disease rely on neuroimaging and samples from cerebrospinal fluid, Wild’s assay is blood-based. The new method promises less invasive procedures for the patients, and reduced costs overall.

The blood-based test searches for the neurofilament light chain protein, the presence of which signals cellular brain damage. In an international effort that followed 366 participants over the course of three years, researchers found that levels of the neurofilament corresponded with Huntington disease progression. That is, the higher the level of neurofilament in the blood, the more likely patients were to develop or manifest symptoms of Huntington’s. Furthermore, the levels predicted those patients who would later receive the diagnosis even though these patients had no symptoms at the start of the study.

"We have been trying to identify blood biomarkers to help track the progression of HD for well over a decade, and this is the best candidate that we have seen so far," said Dr Wild. "Neurofilament has the potential to serve as a speedometer in Huntington's disease, since a single blood test reflects how quickly the brain is changing. That could be very helpful right now as we are testing a new generation of so-called 'gene silencing' drugs that we hope will put the brakes on the condition. Measuring neurofilament levels could help us figure out whether those brakes are working."

As promising as the results appear, the team cautions that more validation is necessary before the test moves to the clinic. "This is the first time neurofilament has been measured in blood, so much more work is needed to understand the potential and limitations of this test," said Lauren Byrne, the study's first author. "In the future, if drugs to slow HD become available, it may well be used to guide treatment decisions. For now, this test is most promising as a much-needed tool to help us design and run clinical trials of new drugs."

Additional sources: MNT

 

About the Author
  • I am a human geneticist, passionate about telling stories to make science more engaging and approachable. Find more of my writing at the Hopkins BioMedical Odyssey blog and at TheGeneTwist.com.
You May Also Like
NOV 16, 2020
Clinical & Molecular DX
How the CRISPR-based COVID Microlab Can Intercept the Pandemic
NOV 16, 2020
How the CRISPR-based COVID Microlab Can Intercept the Pandemic
The demand for diagnostic technologies to track COVID-19 infections and control community spread of the disease has only ...
DEC 08, 2020
Clinical & Molecular DX
"Honey, I Shrunk the PCR."
DEC 08, 2020
"Honey, I Shrunk the PCR."
In the 1530s, hundreds of years before microscopes and Petri dishes, an Italian physician called Girolamo Fracastoro wro ...
DEC 23, 2020
Clinical & Molecular DX
Smartphone Device Uses CRISPR to Check for COVID
DEC 23, 2020
Smartphone Device Uses CRISPR to Check for COVID
Quick, portable, and ultrasensitive—a new smartphone test for COVID-19 checks all the boxes needed to get a handle ...
DEC 29, 2020
Cardiology
Does Physical Activity Help Reduce the Risk of Aneurysms?
DEC 29, 2020
Does Physical Activity Help Reduce the Risk of Aneurysms?
An active lifestyle is a proven way to prevent many types of cardiovascular diseases. The increased blood flow can preve ...
FEB 23, 2021
Genetics & Genomics
New Insight Into Genetic Basis of IBD From African-American Patients
FEB 23, 2021
New Insight Into Genetic Basis of IBD From African-American Patients
The small variations in the genome that lead to differences in biology, including risk for diseases, can't be assumed to ...
FEB 25, 2021
Coronavirus
COVID Long-Haulers Get Official Recognition
FEB 25, 2021
COVID Long-Haulers Get Official Recognition
For months, many people that have recovered from cases of COVID-19 have reported experiencing a range of lingering healt ...
Loading Comments...