MitoData is a unique multi-national database holding clinical, biochemical and molecular genetic data on human mitochondrial diseases.

The project is run and co-ordinated by the European Union funded programmes mitEURO, EUMitocombat, and Mitocircle.

Based on recent epidemiological studies, there are at least 350,000 people affected by mitochondrial disease in the European Union. Mitochondrial disease causes major disability and can be a threat to life. Mitochondria convert the food we eat into a form of energy that the body can use. As a result, mitochondrial diseases affect parts of the body that are especially dependent upon energy production, including the brain, muscle, the heart, vision, hearing, and they often cause diabetes. Mitochondrial disorders ultimately have a genetic basis, and are due to "spelling mistakes" (called mutations) in the genetic code (DNA). The mutations can affect different regions of DNA (genes) either in the cell nucleus, or in small circles of DNA present within mitochondria themselves. The same mutation in the same gene can cause many different problems in different individuals. This makes it difficult to diagnose mitochondrial disease, and also makes it difficult to predict the future and advise about recurrence risks within the family.

We hope that by collecting information from thousands of families throughout Europe we will advance our understanding of mitochondrial disease. This will enable doctors to provide patients with reliable advice about their future (prognostic counselling), know which complications to look for and to treat, and also allow accurate genetic counselling.

Each data entry will remain confidential, but we will produce summaries of the whole data set which will be available on this site.

For details please contact P.F.Chinnery@ncl.ac.uk

Sequence Database