Progress Made In Huntington's Biomarker Research

Researchers in America believe they have found a way to track the progress of treatments for Huntington's disease

. Work led by neurologist Clemens Scherzer of Brigham and Women's Hospital in Boston, Massachusetts found that patients suffering from Huntington's disease appear to overexpress a gene known as H2AFY in the blood and the brain.

Results of the study suggest that it could be possible to develop a simple test which would allow doctors to tell whether the disease is active, whether it is progressing and how it responds to new treatments.

Huntington's is an inherited disease which causes damage to nerve cells in the brain leading to deterioration and gradual loss of function. According to the National Health Service, it is estimated that as many as 12 in every 100,000 people are affected by Huntington's disease in the UK. In addition, there are people who have inherited the disease but are not yet aware of the fact. There is currently no cure for the condition and its progress cannot be slowed down or reversed, although much can be done to help support sufferers and their families.

A total of 119 human blood samples were tested by the US research team, which came from people who were suffering from the disease as well as healthy participants. It was discovered that those with Huntington's overexpressed the H2AFY gene in their blood. Further blood samples from 142 study participants, and post-mortem autopsy samples from another 12 people, revealed overexpression of the H2AFY gene in the blood and the brain.

According to the researchers, a test based on H2AFY could play a major role in helping researchers make clinical trials more efficient. Dr Scherzer said the team involved in the study were very excited by the potential of the findings. He said the next step is to take the results forward by using the prototype biomarker to come up with a test that can be used as part of drug trials.

Dr Steven Hersch, Ph.D, at the MassGeneral Institute for Neurodegenerative Disease at Massachusetts General Hospital, was also involved in the research. Following the publication of the study results in Proceedings of the National Academy of Sciences, Dr Hersch said that even in large studies which last for a number of years, it remains very difficult to use clinical measures to find evidence that a particular treatment for Huntington's disease might actually slow the condition down. He believes that biomarkers such as H2AFY could help "considerably".

by: Alan Trotter

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