Latest Research by UCL Scientists identify Huntington’s disease biomarker

Publish Date : 2017-06-12

Research conducted by the scientists at the University College London have been successful in identifying the first blood test which has the ability to predict onset and advancement of Huntington’s disease (HD).

The researches carried note that the new discoveries that have been issued in Lancet Neurology, must aid in testing novel treatments for fatal or incurable genetic brain disorder.

This research study’s senior author, Dr. Edward Wild, from the Neurology institute of University College London, believes that this is the first ever an impending and latent blood biomarker has been identified to track Huntington’s Disease so powerfully.

The test helps in measuring a few specific level of protein – neurofilament – which the damaged brain cells expel, and these proteins have been earlier associated with other neurodegenerative diseases, however up till now had not been evaluated in Huntington’s disease.

The scientist research team has determined that the protein levels in the brain were escalated throughout the entire course of Huntington’s disease including the carriers of this disease’s genetic mutation who were several years from displaying any symptoms of the disease.

As a matter of fact, Huntington’s disease mutation carriers have concentrations of neurofilament which were 2.6 times that of controlled participants, and the amount increased throughout the course of the disease right till the stage 2 diseases from the premanifest Huntington’s disease.

The research team measured levels of neurofilament in blood samples from the TRACK-HD study which is an international project that kept a track on 366 volunteer for over three years. They noticed that the levels of the brain protein were escalated throughout the HD course.

The researchers further stated that in participants who showed no symptoms at the beginning of the research study, the neurofilament level estimated subsequent disease onset, in comparison with those having elevated levels were probably to acquire symptoms in the coming three years.

They also noticed that accountable factors which were already known to predict rate of progression, age and a genetic marker, levels of protein neurofilament can yet individually forecast onset, advancement and the rate of shrinkage of the brain.

Dr. Edward Wild stated, "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."

In the report, he further said, "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.”

However, another study author, Lauren Byrne, from the University College London Institute of Neurology cautions that additional work in required to learn the limitations and potentials of this test.

He stated that, “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.”

Chief scientific officer of CHDI Foundation (a US non-profit Huntington’s disease research foundation), Dr. Robert Pacificiwas glad to accept the latest development. He said, “I can see neurofilament becoming a valuable tool to assess neuroprotection in clinical trials so that we can more quickly figure out whether new drugs are doing what we need them to. As a drug hunter, this is great news.”