New research by a team of Cal Poly Pomona professors and students is shedding light on a fatal and incurable genetic disease and opening up new possibilities for treatments.
The research focuses on Huntington’s disease, a degenerative disorder that usually strikes people in their late 30s and early 40s. It causes a progressive deterioration in mental abilities and uncontrollable muscle movements that get worse as time goes by. Individuals in the late stages of the disease are completely unable to care for themselves.
For years, the scientific and medical communities have assumed that the debilitating movements associated with the disease were the result of neurons degenerating, primarily in the brain. However, Andrew Voss, assistant professor of biology, wasn’t so sure that was the full story.
Neurological diseases aren’t Voss’s primary field of study — his research laboratory examines the skeletal muscles of mammals. He says he stumbled into Huntington’s disease through a fluke.
Students in a graduate class he was teaching picked published research papers to discuss for an assignment. One of the students selected a paper on Huntington’s disease.
“If it weren’t for that, I never would have done this research,” Voss says. “As far as I knew, Huntington’s disease was a neuro disorder, so it wasn’t on my radar.”
But when Voss looked at the findings in that paper, he saw patterns that suggested to him that some of the disease’s symptoms are a result of malfunctioning muscles, in addition to a malfunctioning brain.
“Dr. Voss had a different interpretation of the results,” says biology graduate student Chris Waters, the lead author of the paper that outlines the findings of the research. “Really it was very fortuitous when it gets down to it.”
To look into the matter, Voss and Waters teamed up with undergraduate biology student Grigor Varuzhanyan to examine the muscles of mice that carry genes for the disease.
“We measured the electrical properties and signaling in muscle,” Voss says. “What these electrical events do is initiate muscle contraction and control the stability of the muscle.”
They found that the muscles of these mice were overly excitable and prone to contracting too easily. To connect these muscle abnormalities to the genetics of the disease, the Voss laboratory collaborated with Professor Robert Talmadge, who is also of the biological sciences department.
“This work demonstrates that Huntington’s disease is more than just a neurodegenerative process,” says Richard Okita, program director in the National Institutes of Health’s National Institute of General Medical Sciences, which helped fund the research. “It also involves abnormalities in skeletal muscle, which contribute to the development of motor deficits experienced by people with the disease.”
The team’s study, which was co-authored by all four researchers, has now been published in a prestigious research journal, the Proceedings of the National Academy of Sciences. Varuzhanyan says he’s glad to see the study published, but adds that it’s more important to have made a contribution toward understanding Huntington’s disease.
“It is very rewarding that our work will be published,” Varuzhanyan says. “Perhaps the most rewarding feeling comes from the notion that our findings may one day improve the quality of people’s lives.”
The findings of the study could lead to new ways of studying the disease, and even to more effective treatments, Voss says.
“You can examine human muscles much easier than brains. No one wants part of their brain taken out,” Voss says. “Additionally, it is easier to get therapeutic agents to muscle than the brain. Perhaps we could target the muscle to at least alleviate the symptoms.”
The study was funded in part by the National Institutes for Health (grant GM096945).