Dr. Richard Rodenburg, Dept. of Pediatrics has received a grant of 250.000 EUR from the Prinses Beatrix Spierfonds for research on the identification of novel intervention targets to treat mitochondrial disease patients.
Mitochondrial disorders are the most frequently occurring metabolic disorder with an estimated incidence of at least 1:5000. Currently, the treatment possibilities for patients suffering from this disease are very limited. In recent molecular genetic studies of a large group of suspected mitochondrial patients in our center, several defects in proteins with a function outside the mitochondrion have been identified. These patients have been shown to have a reduced mitochondrial function in muscle and in cultured skin fibroblasts. The goal of this project is to characterize the interaction of these extramitochondrial pathways with mitochondrial energy metabolism, and to identify novel therapeutic targets for treatment of patients with a mitochondrial disorder.
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