Cellular pathway of genetic heart disease similar to neurodegenerative disease

Newswise — ROCHESTER, Minn. — Research on a genetic heart disease has uncovered a new and unexpected mechanism for heart failure. This landmark discovery found a correlation between the clumping of RNA-binding proteins ― long linked to neurodegenerative disease ― and the aggregates of protein found in the heart tissue of patients with RBM20 dilated cardiomyopathy.

Dilated cardiomyopathy is a disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body. A decade ago, Timothy Olson, M.D., a pediatric cardiologist at Mayo Clinic, traced the disease to a genetic mutation in a gene called RBM20. Unlike most heart disease, this form of cardiomyopathy can affect patients as early as young adulthood, and they are at particularly high risk for sudden cardiac death.

For the past decade, heart failure in RBM20 cardiomyopathy was…

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