Funding outcome

Mitochondria are an essential part of our cells and are responsible for producing energy for our body. When there is an error in DNA to support mitochondrial functions, genetic diseases occur which are also known as primary mitochondrial disorders. These disorders can cause problems in organs that need high levels of energy such as the brain, heart, and muscles. To increase our knowledge about primary mitochondrial disorders, we can look at individuals health records to understand how the primary mitochondrial disorders progresses over time. There are various tests applied to diagnose primary mitochondrial disorders. Sometimes even with lots of tests, the genetic cause cannot be identified. This can lead to extra tests and inappropriate treatments time to time. We will study the accuracy and usefulness of different DNA tests. We will apply mitochondrial disease criteria scoring system to tell apart primary mitochondrial disorders from other genetic diseases that may mimic these disorders. We will also apply two other scoring systems to assess if the problems are getting worse in primary mitochondrial disorders. Overall, better understanding of primary mitochondrial disorders can help improve the diagnosis and management of children and women with suspected or genetically confirmed primary mitochondrial disorders. Primary mitochondrial disorders are inherited either from mothers only or from both parents. Mothers, affected with primary mitochondrial disorders, will pass these to their children during pregnancy, but we will not know if their children will have severe problems when they are born. We will look for ways to improve information to help pregnant women.