ALBERTA, Canada – Muscular dystrophy is a group of genetic diseases causing progressive muscle weakness and damage over time. While there is no cure, scientists continue to search for treatments. Canadian researchers believe a new therapy appears particularly promising at treating one specific version of the disorder, known as facioscapulohumeral muscular dystrophy (FSHD).
Scientists say muscular dystrophy is caused by genetic mutations that interfere with the production of proteins in the body. Those proteins are responsible for healthy muscle development and function.
Stopping toxic proteins causing muscular dystrophy
People with FSHD produce a toxic protein called DUX4 which damages muscle cells and causes them to die. Researchers at the University of Alberta have developed a technique to interfere with the production of DUX4. To do this, they use a type of DNA-like molecule called locked nucleic acid (LNA) gapmer antisense oligonucleotide (AO), or “gapmer.”
Gapmers are able to specifically target the gene location that causes DUX4 production, cutting creation of the toxic protein. Researchers say their tests on laboratory mice and human cells reveal the drug almost totally eliminates DUX4 levels.
“We used a very low concentration of the treatment and it knocked down more than 99 percent of the DUX4 production, so this is extremely efficient,” lead author Toshifumi Yokota says in a university release.
Moreover, Yokota adds muscle cells begin to function better and are larger after treatment.
The push to get a drug to patients
Next, researchers plan to test better ways to deliver their treatment. They also want to examine potential side-effects and determine how long the benefits of the drug last. The team has also applied for a patent in hopes of advancing the drug to clinical trials in humans in the future.
“We are not ready to start clinical trials but it’s a significant first step towards future drug development,” Yokota explains.
The study is published in Proceedings of the National Academy of Sciences.