A new study conducted at the Fred Hutchinson Cancer Research Center in Seattle has found a new potential target for treating or even reversing Duchenne muscular dystrophy, a rare but devastating disease that currently has no cure.
The disease is caused by the DUX4 gene, which is normally shut off very early in a fetus’ development. If someone is born with too few copies of the gene, it will spontaneously turn back on, leading to a breakdown in muscle cells that eventually leads to difficulty with basic movements like walking, speaking and swallowing.
Researchers at Fred Hutch used a proteomics approach — the relatively young field of studying proteins — along with CRISPR gene editing to identify two groups of proteins responsible for turning the gene off in both stem and muscle cells.
Using that knowledge, scientists could theoretically create a treatment that prevents or reverses the disease by shutting down the DUX4 gene. The study was led by Fred Hutch biologist Dr. Stephen Tapscott and staff scientist Dr. Amy Campbell and was published Tuesday in scientific journal eLife.
While such a treatment would still be years down the line, the results are an important step toward a deeper understanding and more effective treatment of the disease.
About 900,000 people are affected by Duchenne muscular dystrophy around the world. It is the most common form of muscular dystrophy.
DMD Therapeutics, a Seattle area startup that spun out of the University of Washington, is pursuing a treatment for Duchenne muscular dystrophy. The startup has found success in mice trials and is moving on to test the treatment in humans.