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  • 1 January 2021 to 31 December 2021
  • Awards: Pump-priming Awards

Duchenne Muscular Dystrophy (DMD) is a genetic disorder that affects 1 in 3500-5000 newborn males worldwide and characterized by disfunction of both skeletal and cardiac muscle. Currently, the predominant cause of death in DMD patients is a progressive cardiomyopathy that leads to heart failure (HF).

Although the genetic defect responsible for DMD has long been known and results in lack of dystrophin, a protein required for the structural integrity of the muscle cells, the exact mechanisms leading to the cardiomyopathy are not completely understood.

In preliminary studies using a mouse model of DMD we have demonstrated that the cardiac myocytes show a profound alteration in the way they respond to stress. Critically, we found that these alterations are already present immediately after birth, well before the appearance of any obvious clinical evidence of cardiac disease.   

We now want to establish whether the alteration observed in the mouse model are also present in human cardiac myocytes. For this, we will use inducible pluripotent stem cells obtained from patients affected by DMD or healthy donors as controls. If our findings are confirmed, we will then have a rationale to devise interventions that may allow to delay or stop the progression to HF.

Image title: Human cardiac myocyte differentiated from inducible pluripotent stem cell

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