The effects of oxygen in the context of mitochondrial dysfunction (MITOX) 

Study code

Lead researcher
Professor Patrick Chinnery

Study type
Participant re-contact

Institution or company
University of Cambridge

Researcher type

Speciality area


The aim of this study is to learn more about the role of oxygen in people with mitochondrial disease, and in other conditions where the mitochondria do not function properly.  

Mitochondria are important parts of the cell that are responsible for producing energy. The amount of energy they produce depends on how much energy your body needs to function and this energy production can be severely impaired in people with mitochondrial disease. Mitochondrial disorders affect 1/5000 of the UK population and there is currently no cure. Oxygen is essential for production of the body’s main source of energy (adenosine triphosphate or ATP) through a process called oxidative phosphorylation (OXPHOS). When people with mitochondrial disease develop acute illnesses, or have routine surgical operations, they are routinely given very high oxygen levels to breathe. Doctors do this because they think it will be helpful. However, recent studies in animals with faulty mitochondria suggest that this might make mitochondrial function worse in some situations. We want to know whether this happens in humans, so that we only use high oxygen treatments when it is safe and helpful to do so. 

We will study the effects of inhaling high oxygen levels in patients with mitochondrial disease, and compare them to people who do not have mitochondrial disease. We will compare the effects of regular room air (roughly 20% oxygen) and high level oxygen (60%) inhaled for up to 3 hours. This is the level of oxygen routinely used in hospital, which does not cause any side effects in most people.