First human model for form of inherited heart disease uses realistic levels of mutant protein

AI Summary

Researchers have developed the first human model of desmin-related cardiomyopathy that uses realistic levels of the mutant protein. The inherited heart-muscle disease affects about one in 2,000 people worldwide, can cause heart failure, and currently has no disease-specific treatment.

Inherited cardiomyopathies—diseases of the heart muscle, which cause the heart to have a harder time pumping blood to the rest of the body—are the leading cause of heart failure in young adults. Desmin-related cardiomyopathy (DRM) is one such familial disease that affects approximately 1 in 2,000 individuals worldwide. No disease-specific therapies exist for DRM, with patients receiving only generic heart failure medicines.