Mutations in the gene encoding desmin, the muscle-specific intermediate filament, cause severe muscle pathologies. The team of Onnik Agbulut & Zhenlin Li (B2A) and their collaborators examined the role of mitochondria in the development of heart failure induced by a desmin mutation. They used induced pluripotent stem cells to generate healthy and mutation-positive cardiomyocytes. They showed that the mutation leads to changes in cell structure and mitochondrial function.

These results were confirmed in patient heart biopsies, as well as by transferring mitochondria from healthy cardiomyocytes into mutant cells, a process which restored function.

In conclusion, this study highlights the importance of mitochondrial abnormalities in the development of desmin-related cardiomyopathy, and opens up new therapeutic avenues.