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Content archived on 2024-05-29

Mitochondrial diseases: From bedside to genome to bedside


The aim of MITOCIRCLE is to optimise efficient and accurate diagnosis throughout the EU and thereby establish best practice for the clinical investigation and management of patients and families with mitochondrial disease. Mitochondrial disorders are often fatal multisystem disorders, associated with abnormalities of the terminal component of mitochondrial energy metabolism, i.e. oxidative phosphorylation (OXPHOS). Defects of the respiratory chain are the biochemical hallmarks of human mitochondrial disease. Because of its dual genetic control, defects in OXPHOS can be due to mutations in either the mitochondrial or nuclear DNA. Although OXPHOS disorders have comon characteristics as a group there is considerable clinical variability among patients, even in those having the same genetic defect. As a result each centre has acces to only relatively small numbers of patients in each disease category, making it difficult for individual centres to develop consensus guidelines for the investigation of mitochondrial diseases. There are currently no clinical or laboratory guidelines for the investigation of suspected mitochondrial disease, resulting in considerable variability in the standard and accuracy of investigation throughout the EU. Developing consensus guidelines with a broad relevance for all suspected patients is a matter of some urgency to ensure rapid and accurate diagnosis of mitochondrial disorders in each member state. This will only be possible through the concerted action of the principal European centres with expertise in both clinical and laboratory aspects. This forms the focus of this proposal - to take advances made in the laboratory back to the clinic and thereby improve the management of patient and families with mitochondrial disease. This will pave the way for futute treatment trials.

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Minderbroedersberg 4-6

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Participants (5)