An 11½-minute interview with researcher Stephen Tapscott explores recent findings about the molecular basis of facioscapulohumeral MD
posted on February 2, 2012 - 4:55pm
A protein called DUX4, inappropriately produced ("expressed") in skeletal muscle fibers, is emerging as a major factor in facioscapulohumeral muscular dystrophy (FSHD).
In FSHD-affected muscles, full-length DUX4 protein disrupts numerous biochemical pathways that normally would help muscle cells survive, mature and develop specialized roles.
New research explains probable ways in which DUX4 protein, if made at the wrong time and in the wrong place, leads to FSH dystrophy
posted on January 19, 2012 - 5:09pm
Editor's note 2/2/12: This story was updated to reflect the availability of a podcast in which Stephen Tapscott is interviewed.
A little over a year ago, a team of researchers announced a crucial new finding that helped explain the molecular basis of facioscapulohumeral muscular dystrophy (FSHD).
This article includes items about research in: Duchenne MD, limb-girdle MD, inclusion-body myositis, polymyositis, dermatomyositis, FSH dystrophy, myotonic muscular dystrophy and researcher George Karpati.