Research
First human model for form of inherited heart disease uses realistic levels of mutant protein
The Brief
- Researchers built a human cell model of desmin-related cardiomyopathy (DRM), an inherited heart muscle disease.
- The model expresses the mutant protein at levels closer to those found in patients, rather than at artificially high levels.
- The source describes DRM as one familial form of inherited cardiomyopathy, a leading cause of heart failure in young adults.
Why it matters
A disease model that uses realistic mutant protein levels may give more reliable results for studying how inherited heart muscle disease develops and for testing potential treatments.
Who’s affected
- researchers studying inherited cardiomyopathies and heart failure
- clinicians and families affected by desmin-related cardiomyopathy
- #cardiomyopathy
- #desmin
- #heart disease
- #disease model
- #human cells
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…
Timeline
Medical Xpress reports the first human model of DRM using realistic mutant protein levels
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First human model for form of inherited heart disease uses realistic levels of mutant protein