Protein tweak may prevent DMD-related heart disease

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Researchers may have found a way to prevent Duchenne muscular dystrophy-related heart disease, the leading cause of death in patients living with the disease.

The study examines the role of Connexin-43 (Cx43), a protein that regulates heart function. The researchers found that Cx43 was dysfunctional in both human and mouse Duchenne muscular dystrophy (DMD) hearts, so they modified the Cx43 protein in the hopes of alleviating heart disease.

They discovered that altering the Cx43 protein through a process called phosphorylation protected DMD mice against irregular heart beat and late-stage failure.

DMD, a genetic disorder characterized by progressive muscle degeneration, is the most common type of muscular dystrophy, affecting about one in 5,000 males and typically beginning at about age 4. The average life expectancy is 26.

“For many DMD patients, the heart muscles gradually break down, leading to death. Our findings may help give hope to millions of patients,” says study coauthor Diego Fraidenraich, an assistant professor of cell biology and molecular medicine at Rutgers University New Jersey Medical School.

“Medical advances have managed to slow down the disease progression in most muscles in the body, but there are yet to be any discoveries that target or prevent deterioration of the DMD heart, which remains the number one killer among these patients,” says coauthor Eric Himelman, a PhD candidate. “Therapies based on our finding may help prolong the lives of muscular dystrophy and other heart disease patients.”

Next steps include developing drugs that directly target Cx43 in DMD hearts, with a goal of potentially introducing clinical trials using Cx43 modification as a therapy for DMD patients.

The study appears in the Journal of Clinical Investigation. Another study in JCI Insight also examined Cx43 activity in the heart.

The National Institutes of Health, the Muscular Dystrophy Association, and the American Heart Association funded the work.

Additional researchers are from Rutgers, the Fred Hutchinson Cancer Research Center, New York University, and Baylor College of Medicine.

Source: Rutgers University