Myotonic dystrophy may be a case that not even TV’s brilliant doctor House could solve. Doctors and scientists have trouble diagnosing the disease because its symptoms – which include an irregular heartbeat, or cardiac arrhythmia – are often seemingly unrelated. There is currently no cure for the disease.
University researchers Bryan Warf and Andy Berglund tried to make more sense of why symptoms occur together, and they discovered that protein directly interacts with mis-processed RNA. Their results will be published in the December edition of the journal RNA.
“It doesn’t necessarily bring us closer to finding a cure, but it helps us understand what’s going wrong,” said Warf, the lead author in the study. “It’s a really complex puzzle, and this is just another piece of it.”
Warf said it’s challenging to put all the pieces of the disease together because the body is made up for more than 30,000 genes.
Myotonic dystrophy, an inherited disease, is a form of muscular dystrophy, and its symptoms can appear at any age. Symptoms can include heart complications, muscle degeneration and iridescent cataracts, which doesn’t allow light to pass through the lens of the eyes. Some with the disease can contract a muscle but can’t release it.
“All together, these symptoms are really confusing,” Warf said.
Warf and Berglund discovered the mis-processing of the RNA is thought to have direct consequences for people with the disease, and may likely be attributable to causing the most fatal symptom – cardiac arrhythmia.
During the last decade, the research community has been more focused on studying the disease, Warf said.
The recently formed American arm of the Myotonic Dystrophy Foundation awarded the University of Oregon researchers with $1,000 to fund the studies. Founding board member Jeremy Kelly, whose wife and two children have myotonic dystrophy, hopes the foundation can fund more research to find treatment.
“It’s becoming clear that scientists are making great progress in trying to find a cure for this disease, but they need an organized patient population to help them move forward,” Kelly said.
He added that myotonic dystrophy has affected his children and wife, who is originally from Bend. The disease lowers energy levels and slows his children’s academic and physical growth, Kelly said.
In families with myotonic dystrophy, it’s difficult to manage the disease as people get older, Kelly said.
“It becomes more and more challenging to be a productive member of society,” Kelly said. “This is a population that just naturally isn’t going to be out there helping themselves.”
Warf said a cure could be found in roughly 10 years. He said he predicts scientists will have ideas for cures in about five years, but it will take a few years for the Food and Drug Administration to approve new treatments. After that, companies will have to market the treatment.
The University could play a larger role in understanding myotonic dystrophy in the future. In addition to Warf’s work, University students Emily Goers, Catherine Matthys, Leslie VanOs, Devika Shah and Postdoctoral Research Associate Rodger Voelker are working on projects to understand the molecular functions of the proteins and RNAs involved on myotonic dystrophy.
The research on campus started in 2002 thanks to former student Jeremy Logue, whose mother has the disease.
“He wanted to work on it in the lab, and I agreed it was a good idea,” Berglund said. “Jeremy has gone on to graduate school at Oregon Health and Science University, but he lit a fire in me to understand this disease, and it has become a major focus in the lab and will continue to be a focus in the lab for the foreseeable future.”
Warf said he doesn’t know anyone with myotonic dystrophy, but the research still interests him.
“Scientifically, it’s just a fascinating project,” Warf said. “It’s so complex and really something you can sink your teeth into because it’s so complicated.”
Warf added he hopes to help those suffering from myotonic dystrophy, saying, “I feel like my research can have a direct impact on the future of this disease.”
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