Mitochondrial Disease

Young baby being checked by doctor with stethoscope

Co-ordinated by the Genetic Alliance UK, the Mitochondrial Disease PSP launched in summer 2018. Primary mitochondrial disease refers to a group of disorders caused by mutations in DNA that lead to disturbances of mitochondrial structure and function. Mitochondria are tiny structures present in nearly every cell in our bodies which generate about 90% of the energy we need to live.  

The Mitochondrial Disease PSP Top 10 was published in February 2020.

Key documents

Mitochondrial disease PSP Engagement Summary

Mitochondrial disease PSP Question Verification Form

Mitochondrial Disease PSP Protocol