Scientists Develop First Human Tissue Model of Inherited Cardiomyopathy

Inherited cardiomyopathies are disorders in which genetic changes affect the structure or function of the heart muscle. Some forms can cause abnormal heart enlargement, weakened pumping ability, irregular heart rhythms and, in severe cases, heart failure.

One inherited condition is desmin-related cardiomyopathy associated with changes in the CRYAB gene. This gene produces a protein involved in protecting other proteins from damage and maintaining normal cellular function.

Researchers at Washington University have developed a human tissue model to study this condition. The model uses induced pluripotent stem cells and micro-engineered heart tissue to reproduce aspects of the disease in a laboratory setting.

The researchers reported that the model expresses mutant CRYAB at levels closer to those observed in human disease, addressing limitations of some earlier animal models. Their work also examined problems involving cellular protein quality control.

The model could help researchers investigate how the mutation affects heart-muscle cells and test possible treatment strategies. It is an experimental research tool, not a treatment currently available to patients.