Status: Closed to recruitment. In analysis.
Background
Oxygen is essential for the production of the body’s main source of energy (adenosine triphosphate or ATP) through a process called oxidative phosphorylation (OXPHOS). Mitochondria are also important parts of the cell that are responsible for producing energy, which can be severely impaired in people with mitochondrial disease.
When people with mitochondrial disease develop acute illnesses, or have routine surgical operations, they are usually given very high oxygen levels to breathe. However, recent studies in animals with faulty mitochondria suggest that this might make mitochondrial function worse in some situations.
Objectives
We want to know whether high oxygen levels are toxic for humans with mitochondrial dysfunction, so that we only use these treatments when it is safe and helpful to do so.
Research aims:
- To learn more about the role of oxygen in people with mitochondrial disease and in other conditions where mitochondria do not function properly.
- To compare the effects of regular room air (~20% oxygen) and high-level oxygen (~60%) inhaled for up to three hours.
Who can take part?
- Individuals with a diagnosis of mitochondrial disease caused by the m.3243A>G mutation in mitochondrial DNA (MELAS)
- Healthy volunteers
- Aged between 16-70 years old
What is involved?
Participants will be asked to visit Addenbrooke’s Hospital for a screening visit and two study visits on consecutive days (with an overnight stay if required).
- Screening visit: The screening visit allows us to confirm eligibility to take part in the study and ensure that there are no unexpected side effects to the high-level oxygen.
- Visits 1 and 2: Over the two days, we will ask participants to inhale regular room air and high-level oxygen, undergo non-invasive blood oxygen measurements and complete MRI scans (all under careful supervision). We will also ask them to provide blood samples and complete cognitive assessments.