A Polish team has investigated the mechanism involved in Duchenne cardiomyopathy by studying the transcriptome and proteome of exon 50-deleted cardiomyocytes derived from human iPS cells. She found :
- a decrease in mitoNEET protein levels ;
- an increase in labile iron in the cytoplasm and mitochondria;
- a decrease in ferroportin ;
- an increase in ferritin and transferrin receptor.
Correction of the mutation by CRISP/Cas9 restores normal iron levels in cardiomyocytes; treatment with deferoxamine or pioglitazone reduces free radicals in DMD cardiomyocytes.
