A new multi-institution study spearheaded by researchers at Florida State University (FSU) and the University of California, Los Angeles (UCLA) suggests a tiny protein could play a major role in combating heart failure related to Duchenne muscular dystrophy (DMD), the most common lethal genetic disorder among children. In collaboration with scientists from across the nation, FSU researchers found that increased levels of the protein sarcospan improve cardiac function by reinforcing cardiac cell membranes, which become feeble in patients with DMD. Their findings were published online on April 30, 2019 in JCI Insight. The article is titled “Stabilization of the Cardiac Sarcolemma by Sarcospan Rescues DMD-Associated Cardiomyopathy.” The condition, which typically afflicts young boys, is caused by a mutation that prevents the body from producing dystrophin, a protein crucial to the health of skeletal, respiratory, and cardiac muscles. Advances in treatment for certain types of DMD-related muscle degradation have helped to prolong patients' lifespans. However, as DMD patients age, their heart function declines dramatically. "Patients typically live to 20 or 30 years of age," said lead author Michelle Parvatiyar (photo), PhD, an Assistant Professor in the Department of Nutrition, Food and Exercise Sciences in FSU's College of Human Sciences. "There have been important improvements in respiratory care, which used to be what a majority of patients would succumb to. Now, in their 20s and 30s, they're often succumbing to cardiomyopathy. The heart is functioning with a major component of the cell membrane missing. Over time, it wears out."
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