Mitochondrial cardiomyopathies are heart diseases arising from primary defects in energy producing mitochondria. Currently no treatments exist for these diseases and detailed molecular mechanisms underlying disease pathology are unknown. Advances in stem cell technology have opened up new ways for using patient material through generation of induced pluripotent stem cells (iPSCs) and differentiation of these to disease relevant cell types. This proposal utilizes iPS-lines generated from mitochondrial cardiomyopathy patients in investigating molecular mechanisms leading to the disease phenotype and in identification of putative drug targets.

2023

2027