- Burnett School College of Medicine
A huge leap forward in understanding Huntington’s disease may give patients hope for a cure, thanks to research from Professor Ella Bossy-Wetzel of the UCF College of Medicine’s Burnett School of Biomedical Sciences.
Laboratory tests on skin cells and post-mortem brain tissue of Huntington’s disease patients determined that an overactive protein triggers a chain reaction that causes brain nerve cells to die. Toning down the activity of that protein, known as DRP1, prevented the chain reaction and kept those cells alive, according to Dr. Bossy-Wetzel’s team.
Huntington’s is an inherited, incurable neurodegenerative disease affecting 35,000 people annually. The disease gradually kills nerve cells in the brain, stripping away a person’s physical abilities and causing hallucinations, antisocial behavior and paranoia. People diagnosed with the disease usually die 15 to 20 years after the onset of symptoms, and there is an increased rate of suicide among those struggling with the disease.
“The next step will be to test the DRP1 function in animals and patients to see whether the protein also protects the brain,” Dr. Bossy-Wetzel said. “This could be done before the onset of disease in patients who have the mutant Huntington gene, but have no neurological symptoms. The hope is that we might be able to delay the onset of disease by improving the energy metabolism of the brain.” The research findings will be featured in the cover story of the March edition of the journal Nature Medicine. Other scientists in the field say the discovery is an important step toward eventually finding a cure for Huntington’s.
“It is an outstanding piece of work… It opens new therapeutic targets for therapies aimed at disease modification,” said Flint Beal, a professor of Neurology and Neuroscience at the Weill Medical College of Cornell University who specializes in the disease.
Others who contributed to the study and appear as authors in the Nature Medicine article are doctoral students Wenjun Song, Jin Chen, Alejandra Petrilli and Yue Zhou; postdoctoral fellow Geraldine Liot; and College of Medicine Research Professor Blaise Bossy.