At 27, Danny Miller expected himself to be his company’s “young gun” diesel mechanic. But then he began noticing involuntary muscle movements in his face, hands and feet. He felt weak. His memory was fading.
Doctors gave him a heartbreaking diagnosis: Huntington’s disease, an incurable neurodegenerative disease that causes severe mood changes, cognitive decline and early death.
Scientists describe Huntington’s as having Alzheimer’s disease, schizophrenia and ALS (Lou Gehrig’s disease) all at the same time. They know that a mutant gene causes the disease by stimulating production of an abnormal version of a protein called huntingtin. The protein’s exact purpose in the body remains unclear, but it appears to play a critical role in the function of nerve cells, especially in the brain. So abnormal huntingtin proteins are most harmful to brain nerve cells.
Danny Miller and his wife, Katie, at a Huntington’s Disease Society of America (HDSA) event. Danny was recently diagnosed with Huntington’s.
Dr. Amber Southwell
Now a UCF College of Medicine researcher has synthesized pieces of DNA to stop production of mutant huntingtin while leaving normal huntingtin proteins intact. Dr. Amber Southwell’s results, published this month in Science Translational Medicine, showed that after suppressing the mutant protein in mice, damage to their brain function not only ceased, but in some cases was completely reversed.
“For the first time, we showed that by getting rid of this mutant huntingtin protein, psychiatric and mood changes could come back to normal, and this could be done with a potential therapeutic,” Southwell says. “So we’re pretty excited about it.”
“People are always going to continue to have the mutation. But if we can stop them from ever getting sick, that’s going to be good enough – that would be the end goal. We’re a long way from that, but that’s what we’re working towards.”
About 30,000 Americans have Huntington’s disease and typically live about 15 to 20 years after diagnosis. Carriers have a 50 percent chance of passing Huntington’s on to their children. Miller says he wasn’t surprised by his diagnosis – his father, sister, grandmother and at least three other relatives have Huntington’s or have died from it.
“When I couldn’t stand anymore, or walk, I went out and took wheelchair dancing lessons,” he says.
He’s cautiously optimistic that biomedical research like King’s will lead to better treatments for CMT patients.
“It’s a common disease, but not one that’s regularly heard about,” Linde says. “So we need to bring awareness of new medical research to our community. There is no cure yet, but hopefully someday there will be.”