Scientists have unveiled the world’s first blood test that predicts when an at-risk person is likely to get Huntington’s disease (HD).
By measuring levels of a protein released by damaged brain cells, the test also offers a rapid, inexpensive way of predicting how successful treatment is likely to be, according to the researchers. A blood test is preferable over current brain scans and invasive spinal fluid analyses, they add.
Experts have described the findings as a major advance in HD research. Around 10,000 people in the UK have HD and 25,000 are at risk.
What Is Huntington’s Disease?
Huntington’s disease (HD) is a genetic disorder that affects the central nervous system. It occurs as a result of a faulty gene that leads to nerve cell damage in the brain. Early symptoms often include uncontrollable muscle movements, stumbling, lack of concentration, mood changes and memory loss. Involuntary movements and difficulty talking and swallowing usually occur later. There is no cure. Treatment focuses on medication to ease symptoms and speech therapy to improve talking and swallowing.
Source: Huntington’s Disease Association
How the study was carried out
Researchers from around the world, including University College London (UCL) analysed 200 people with genes for HD.
Some of the participants had signs of the condition or were in the early stages.
Tests, including brain scans and medical check-ups, were carried out over three years to determine how disease progression affected patient’s thinking and movement.
Blood samples were also taken to measure levels of a protein known as neurofilament light chain (NFL), which is released from damaged brain cells.
Results, published in the journal Lancet Neurology, revealed NFL levels are high in people with HD.
They are even elevated in those who carry the gene for the condition but are years away from demonstrating symptoms.
The findings also revealed NFL levels rise as HD gradually worsens and the patient’s brain shrinks.
Potential blood test
Study author Dr Edward Wild at UCL, said: ‘Neurofilament light chain has the potential to serve as a speedometer in Huntington’s disease, since a single blood test reflects how quickly the brain is changing.
‘We have been trying to identify blood biomarkers to help track the progression of Huntington’s disease for well over a decade and this is the best candidate we have seen so far,’ the BBC reported.
The researchers suggest such a blood test may offer a rapid and inexpensive way of predicting someone’s HD risk rather than current brain scans and invasive spinal fluid analyses.
They add the blood test may be particularly beneficial when determining if treatments are likely to be successful.
Commenting on the findings Professors Christopher Ross and Jee Bang from John Hopkins University wrote: ‘The study represents a major advance in the field of Huntington’s disease and neurodegeneration in general’.
The study’s researchers have since initiated a larger trial.
This comes after researchers from Columbia University revealed crispr-Cas9 gene editing technology, which was thought to humanly save babies from conditions such as HD, may introduce harmful mutations into DNA. The finding may put a stop to clinical trials scheduled in the US for next year, as well as those currently underway in China.