International Research Team Finds Two Genetic Flaws Behind Third
Most Common Form of Inherited Muscular Dystrophy Embargo
expired: 11/11/2012 1:00 PM EST Source Newsroom: Fred Hutchinson
Cancer Research Center Newswise — SEATTLE – 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