Scientists identify new biomarker to assess cardiac dysfunction in Duchenne’s

Scientists have identified new biomarkers to assess cardiac dysfunction in Duchenne’s muscular dystrophy, according to a new study. The findings of the study have been reported in the Journal of Cardiac Failure.

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is one of nine types of muscular dystrophy. It is a severe muscle disease that causes progressive muscle weakening and degeneration.

Duchenne muscular dystrophyDMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. Symptom onset is in early childhood, usually between ages 3 and 5. The disease primarily affects boys, but in rare cases, it can affect girls.

Cardiomyopathy is the leading cause of death in Duchenne muscular dystrophy (DMD). Standard cardiac biomarkers are poor indicators of DMD cardiovascular disease. Matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) regulate collagen turnover. Determining factors involved in DMD cardiomyopathy could identify novel biomarkers to follow disease progression and as targets for drug therapy.

DMD cardiomyopathy appears to result from progressive myocardial fibrosis or scar formation. Jonathan Soslow, MD, MSCI, and colleagues explored a role for proteins called MMPs and TIMPs that regulate the extracellular matrix — the connective tissue between cells.

They found elevated blood levels of three MMPs in patients with DMD compared to controls. One of these, MMP7, was higher in DMD patients with cardiac dysfunction as determined by cardiac MRI.

The findings suggest a role for MMP7 in DMD myocardial fibrosis and support further study of MMP7 as a potential biomarker of cardiovascular disease severity.

The key findings of the study are:

• Standard cardiac biomarkers are poor indicators of DMD cardiovascular disease.


• Matrix metalloproteinases (MMPs) regulate collagen turnover.


• MMP7 correlates with DMD function and severity of the scar.


• MMP7 holds promise as a novel cardiovascular biomarker in patients with DMD.

This research was supported by the National Institutes of Health (grants HL123938, HL141248, TR002243), the Fighting Duchenne Foundation and the Fight DMD/Jonah and Emory Discovery Grant.