A report published in Proceedings of the National Academy of Sciences finds that people with Huntington's Disease overexpress a gene call H2AFY in their blood. The finding could eventually help researchers monitor the effectiveness of drugs in clinical development for the disease.
Huntington's Disease (HD) is a rare genetic condition that affects about 30,000 Americans, according to a 2008 FDA release on the condition. Any child born to a parent who carries the genetic mutation that causes HD has a 50% chance of developing HD; this means that up to 200,000 people have a 50% chance of developing the disease, which causes a loss of muscle coordination, mood swings, dementia and eventual death.
Researchers at Brigham and Woman's Hospital and at Massachusetts General Hospital, where the research was conducted, collected blood samples from Huntington's patients and compared them to samples from healthy individuals. They found that people with HD had a 1.6-fold increase in expression of H2AFY.
The next step was to determine whether the biomarker could be used to measure the effectiveness of a drug in clinical trials. The researchers gave the neuroprotective drug sodium phenylbutyrate to mice that overexpressed H2AFY, and found that after two weeks of treatment, the drug had reduced expression of that gene. Blood samples were also taken from participants in a Phase II trial of sodium phenylbutyrate; those who'd received the drug demonstrated decreased expression of H2AFY.
"We know how to diagnose HD. What we don't have, however, is a simple test to tell us whether the disease is active and progressing or responding to new medications. Such a test would be critical for making clinical trials more efficient. We are excited about the potential of our discovery," said Dr. Clemens Scherzer, a researchers at the Center for Neurologic Diseases at Brigham and Women's Hospital. "The next challenge will be to develop this prototype biomarker into a test that is useful in drug trials."
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