Molecular Mechanisms of Mitochondrial Diseases
Mitochondrial diseases are a heterogeneous group of disorders, prevalent in approximately one in 5000 births. Mitochondrial dysfunctions can be caused either by mutations in the mitochondrial genome or by mutations in nuclear-encoded proteins. The respiratory chain is composed of both, mitochondrial- and nuclear-encoded proteins, which need to be assembled to form a functional complex.
Mitochondrial respiration provides 90% of the energy needed for cellular processes while the heart has the largest metabolic demand of any organ in the body. As such, mitochondrial dysfunctions often manifest themselves as cardiac diseases. We are interested in the pathological mechanisms through which mitochondrial dysfunctions promote the development of cardiac diseases.
We use mouse models and patient iPSC-derived cardiomyocytes as model systems. We apply biochemical methods to analyze structural and functional dysfunctions of the respiratory chain and use cell biological methods to evaluate changes in the metabolism of the cardiomyocytes.