An international research team co-led by a scientist at Fred Hutchinson Cancer Research Center has identified two genetic factors behind the third most common form of muscular dystrophy. The findings, published online in Nature Genetics, represent the latest in the team's series of groundbreaking discoveries begun in 2010 regarding the genetic causes of facioscapulohumeral muscular dystrophy, or FSHD.
The team, co-led by Stephen Tapscott, M.D., Ph.D., a member of the Hutchinson Center's Human Biology Division, discovered that a rare variant of FSHD, called type 2, which accounts for about 5 percent of cases, is caused by two genetic mutations that together cause the production of muscle-damaging toxins responsible for causing symptoms of this progressive muscle disease.
Specifically, the researchers found that a combination of genetic variants on chromosomes 4 (called DUX4) and 18 (called SMCHD1) can cause type 2 FSHD. The DUX4 variant was first described by the research team in 2010 as a mechanism behind the more common, type 1, version of the disease.
"Many diseases caused by a single gene mutation have been identified during the last several decades, but it has been more difficult to identify the genetic basis of diseases that are caused by the intersection of multiple genetic flaws," Tapscott said. "Recent advances in DNA sequencing made this study possible and it is likely that other diseases caused by the inheritance of multiple genetic variants will be identified in the coming years." Understanding the genetic mechanisms of type 2 FSHD could lead to new biomarker-based tests for diagnosing the disease and could lead to the development of future treatments, Tapscott said.
FSHD affects about half a million people worldwide. Symptoms usually first appear around age 20 and are characterized by a progressive, gradual loss of muscle strength, particularly in the upper body.
Fred Hutchinson Cancer Research Center: http://www.fhcrc.org
This press release was posted to serve as a topic for discussion. Please comment below. We try our best to only post press releases that are associated with peer reviewed scientific literature. Critical discussions of the research are appreciated. If you need help finding a link to the original article, please contact us on twitter or via e-mail.
Tooth unearthed by 20-year-old volunteer hailed as major discovery by paleoanthropologist overseeing dig at Arago cave near Tautavel
Autistic children are just as good at reading emotions from the body as those without – they just don't like the closeness that interpreting emotions from faces requires
Individual cells can be made to act like tiny lasers, offering a more accurate way to tag and monitor tumour cells, for example
If you want to know the secret behind the success of Tyrannosaurus rex and its meat-eating dinosaur cousins, look no further than their teeth.
A recent article argued that sexuality is down to choice, not genetics. But the scientific evidence says otherwise, and points to a strong biological origin
When I hear the word “sabertooth”, my mind immediately jumps to the great sabercats who sliced through throats …
The Portland Press Herald reports that "Captain Eli," a rare orange lobster, will be kept at the Fisherman's Catch Café in Raymond, Maine, before Bill Coppersmith releases it back into the ocean.
A very rare genetic mutation causes some people to develop Alzheimer's in their 30s. It also makes these people the ideal candidates for tests of potential Alzheimer's drugs.
Adding pigment may shield eggs from UV radiation
Atlantic bottlenose and spotted dolphins are cooperating in unique mixed-species groups that are mostly platonic, but sometimes cross-species sex is involved