TUSCALOOSA, Ala. – A University of Alabama assistant professor of biological sciences says answers for the treatment and cure of a common, but often misdiagnosed, neurological disease may lie within a microscopic worm.
The Dystonia Medical Research Foundation has awarded UA’s Dr. Guy Caldwell a grant for further study of a microscopic nematode, known as C. elegans. He is one of only nine researchers nationwide selected in 2000 for a grant award by the foundation.
The Foundation, citing National Institutes of Health statistics, indicates dystonia is six times more prevalent than Huntington’s Disease or muscular dystrophy, yet as few as five percent of the more than 300,000 people in North America estimated to be affected are correctly diagnosed and appropriately treated. A movement disorder that can cause repetitive, painful, spasms, dystonia can affect one or many parts of the body.
Since the worm’s entire DNA sequence has been determined and since a human gene linked to early onset dystonia has been linked to genetic components in the worm, Caldwell said research on C. elegans could lead to better treatments.
“In addition to having all its sequence information available, the worm is a wonderful model for neurological disorders, like dystonia,” Caldwell said. “It has rapid responses that can be easily examined, and it allows you to identify additional genes that may be involved in a similar process.
“This summer, we’re examining the effects of modeling dystonia in worms,” Caldwell said. Portions of the grant are paying John Paul Bevel, a sophomore pre-med major from Birmingham, for his summer research work under Caldwell’s guidance. Three of the worms’ genes have been linked to the human dystonia gene, including two genes first identified by Caldwell.
“John Paul’s project is to create the mutation that causes early on-set dystonia in the worm gene with the highest match to the human gene,” Caldwell said. “The hope is the simplicity of this organism will allow us to dissect the molecular components that cause the disease more rapidly than possible with human genetic research.” Gaining a better understanding of the disease at the molecular level is the first step in developing more effective drugs in treating, or perhaps even curing, dystonia, Caldwell said.
“Although this worm is simple,” Caldwell said, “its nervous system contains all the hallmarks of human neurons, including the neurotransmitter dopamine, which is thought to be involved in dystonia.”
Eddie Goodson, a Notasulga man, has, along with his family, dealt with the horrors of dystonia.
Goodson’s son, Travis, was first diagnosed with dystonia some 20 years ago. “When Travis was about 6 years old, he was playing Little League baseball, and we noticed when he ran the bases he had an unusual gait – a limping type gait,” Goodson said.
The Goodsons took their son to his pediatrician and were told his limp was just a tic and would likely soon go away. Instead, it got worse. About four months later, a neurologist gave them a diagnosis of dystonia – an incurable genetic disorder.
“We had never heard of dystonia,” said Goodson, city president of Colonial Bank in Tallassee. The Goodsons were told Travis had early on-set dystonia – the most severe type – and that within seven to eight years, their active son would likely be unable to walk. The doctor was right.
Today, Travis is 26 and uses a wheelchair. Unable to talk, he uses a “touch talker,” Goodson said. He communicates with his parents and others by typing messages and then, with another keystroke, the machine talks for him.
“All you can do is treat the symptoms,” Goodson said. Periodically, the Goodsons take their son for an injection of botulinum toxin, known as Botox. Injected underneath Travis’ chin, the medication reduces his severe tremors. “It’s effective, but you can’t just shoot up with Botox in all the muscles of the body.”
“Any kind of disease like this is devastating to families, and you just have to make drastic changes in your lifestyle,” Goodson said.
Caldwell hopes that one day families, as a result of genetic research, will face less drastic changes. “I really do believe we can help”
Chris Bryant, Assistant Director of Media Relations, 205-348-8323
Dr. Guy Caldwell, 205/348-9926 Eddie Goodson, 334/257-3315 Dr. Larry Epperson, M.D., 334/265-7500. (Dr. Epperson has treated Goodson’s son and other dystonia patients.)