Mitochondrial disease
About this PSP
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
Top 10 priorities
- Could an understanding of the cellular and molecular processes in mitochondrial disease lead to new treatments?
- Can the damage to cells caused by mitochondrial disease be repaired (e.g. to restore hearing, vision, or repair the pancreas)?
- What are the biological mechanisms that cause mitochondrial disease to get worse over time?
- What biomarkers (biological markers that can be measured e.g. in blood samples) could be used to diagnose mitochondrial disease and to track its progress?
- Could gene therapy help people with mitochondrial disease?
- What are the psychological impacts of mitochondrial disease? What are the best ways to provide psychological support for people with mitochondrial disease and their families?
- What are the best ways to reduce the risk of stroke-like episodes in people with mitochondrial disease?
- What factors could trigger the start of mitochondrial disease in people who have a genetic mutation?
- Why are people with the same genetic mutation affected so differently in mitochondrial disease?
- What are the most effective ways to treat and manage fatigue?
The following questions were also discussed and put in order of priority at the workshop:
- What are the genetic mutations that cause mitochondrial disease and how do they cause it?
- Could a specific diet and/or supplements benefit people with mitochondrial disease?
- What can prevent mitochondrial disease from getting worse over time?
- How do the different genetic mutations cause the symptoms people experience with mitochondrial disease?
- Is there a way to predict who will become ill with mitochondrial disease, and whose symptoms will be worse?
- What can prevent the start of mitochondrial disease in people with a genetic mutation?
- What are the most effective ways to treat and manage problems with muscle weakness?
- What aspects of their health should be monitored over time and how often in people with mitochondrial disease?
- What are the most effective ways to treat and manage problems with memory, concentrating, learning and making decisions?
- What are the most effective ways to treat and manage pain?
- What are the most effective ways to treat and manage problems with balance and co-ordination?
- How does mitochondrial disease change over time as people get older?
- Does exercise benefit people with mitochondrial disease? If yes, what is the best form of exercise?
- What causes the genetic mutation in people with mitochondrial disease whose parents don’t have the mutation?
Document downloads
For full details of all of the questions identified by this PSP, please see the document below.