Researchers at the UF Genetics Institute have identified the gene causing brain-related symptoms of the most common muscular dystrophy in adults.
Muscular dystrophy weakens skeletal muscles and makes movement difficult, according to the National Institute of Neurological Disorders and Stroke. There are about 30 variations of muscular dystrophy.
The disease the researchers are studying is classified as muscular dystrophy but affects the whole body, said Maurice Swanson, a professor of molecular genetics and microbiology who worked to find the gene.
The disease, myotonic dystrophy, attacks basic functions like learning, memory and sleep regulation, he said.
“You can imagine how that impacts the quality of your life,” he said, speaking especially about sleep.
Brain muscle shrinks naturally as people age, he said. Myotonic dystrophy speeds up the shrinking.
Swanson and his team studied a gene in mice that is similar to a gene in humans.
“The disease processes is a little unusual,” he said.
In normal cases, DNA produces RNA, which in turn makes proteins. The team discovered that RNA was expanding to large sizes, Swanson said.
As a result, the proteins lost their functions.
“[The expansion] essentially traps the protein,” he said.
The team needs to learn exactly how the gene causes problems in the brain, Swanson said. The next step is to target the specific symptoms and attack them at a molecular level.
He said the team plans to study sleep issues first, because sleep is regulated by fewer genes than learning and memory.
