HHMI researchers have uncovered a molecular explanation for the profound fatigue brought on by mild exercise in some people with muscular dystrophy.
Expressing a protein known as LARGE can restore muscle function in mice with a type of muscular dystrophy. Evidence of similar benefits in patients' cells suggests potential clinical benefits.
HHMI researchers have discovered that a specific type of calcium channel—a pore-like protein that is nestled in the cell membrane and controls the flow of calcium into the cell—regulates the relaxation of coronary arteries. The scientists hypothesize that drugs targeting this calcium channel might one day be used to treat cardiovascular disease by opening clogged arteries.
HHMI researchers identify protein involved in repairing muscle.
A genetic mutation common in the most severe forms of muscular dystrophy also predisposes to heart damage.
A human cell surface protein that maintains the structural integrity of tissues is also the portal of entry for bacteria and viruses.
Researchers have identified a faulty conduit into nerve cells that causes them to fire uncontrollably, triggering the brief seizures that characterize some forms of epilepsy.
HHMI investigator Kevin P. Campbell, HHMI associate Franck Duclos and University of Iowa College of Medicine M.D./Ph.D. student Leland Lim have identified a new form of muscular dystrophy and developed a screening test to detect carriers of the disease.