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.
What’s scarier than a tyrannosaur? Three tyrannosaurs.
The timing of when a girl reaches puberty is controlled by hundreds of genes, say scientists.
After the world's most expensive salvage operation, the ill-fated Costa Concordia is being floated back to Genoa, where it will be chopped up for scrap metal
Hijacking how neurons of nematode worms are wired is the first step in an approach that could revolutionise our understanding of brains and consciousness
A Beverly Hills auction house has an unusual fossil for sale. It's not an ancient animal. It's something an ancient animal left behind — and it's very, very long.
Dog owners don't doubt that their pooch has feelings. But scientists aren't so sure. An experiment found that dogs act upset, dare we say jealous, when their owners ignore them for a stuffed animal.
Princeton University’s annual science art contest shines a light on the research world, adding a video element this year
Using mitochondrial replacement therapy to create embryos with DNA from three people could have serious consequences Continue reading...
Chinese and Australian scientists find pandas migrate long distances to maintain a balanced diet which helps them breed
On the morning of March 15, 2000, 17 beaked whales stranded themselves on beaches in the northern Bahamas. It was an terrible and extraordinary event: beaked whales are the world's deepest-diving mammals, and these creatures had spent most of their lives in deep undersea canyons.