It’s often said in research circles that many pairs of eyes are better than just one set when it comes to looking at complex problems.
And at the Hutchinson Center, that kind of collaboration reaches across the globe—often leading to groundbreaking results. Such is the case with the latest news on muscular dystrophy, a disease that has vexed the scientific community for decades.
Researchers have known for 20 years that a genetic mutation is present in people with a common form of muscular dystrophy known as facioscapulohumeral dystrophy, or FSHD, a condition characterized by progressive wasting of muscles in the upper body.
People affected by FSHD share a gene called DUX4 that produces a protein toxic to muscle cells. However, researchers had not been able to explain what caused DUX4 to mutate and create the toxic protein.
Now, they think they have found the key that turns the process on. This summer, an international team—with a Hutchinson Center researcher in a pivotal role—identified a DNA sequence that causes DUX4 to be more active. They now believe that two distinct genetic changes on chromosome 4 must be present to cause FSHD.
“In contrast to most genetic diseases, knowledge of the genetic mutation did not explain the cause of the disease,” said Dr. Stephen Tapscott, an expert in neurogenetics and neuromuscular disease at the Hutchinson Center, and one of the co-authors of the study.
Thanks to these findings, researchers hope it will become easier to diagnose the disease and predict in people showing no symptoms, who will develop it. Currently, FSHD affects 300,000 people worldwide. The latest research also is likely to open the door to new therapies.
“The progress was made possible by an unusual degree of collaboration and data-sharing among the individual groups,” said Tapscott, who was one of several researchers who participated in the study.(note: Friends of FSH Research launched Dr. Tapscott and the work at Fred Hutch through a pilot grant given in 2006 and other supportive funding through 2010)
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