Genetic Mutation Could Worsen Heart Function in Duchenne Muscular Dystrophy Patients – Newswise

UT Southwestern Medical Center
Cardiomyopathy Severity

A mutation in the gene that causes cystic fibrosis may accelerate heart function decline in those with Duchenne muscular dystrophy (DMD), a new study by UT Southwestern researchers suggests. The findings, published online recently in the Journal of the American Heart Association, could help doctors develop new strategies to preserve heart function in this population, potentially extending patients’ lives.

DMD, caused by a mutation on the X chromosome, affects 1 of every 3,500 to 5,000 boys worldwide. This mutation results in the failure to produce dystrophin, a protein that protects muscle cells from damage, which in turn causes progressive muscle weakness. Although patients with DMD can suffer a variety of neuromuscular and lung complications, the cause of death – usually before age 35 – is typically cardiomyopathy, or weakness of the heart muscle.

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