The most common and disabling features of mitochondrial disease often involve brain and skeletal muscle. The symptoms can include strokes, epilepsy, dementia and progressive muscle weakness. These features are often progressive and at the moment there are limited treatments available to help patients.
Neurological features are present in 60% of our patients with mtDNA disease causing severe disability and death. Managing individual features such as epilepsy and migraine are important but for many patients there is relentless progression of their neurodegeneration. Understanding the mechanisms involved in both the nature and progression of these neurological features is crucial if we are to develop novel treatments for our patients. This is an active group of clinicians and scientists who will be working together in both the laboratory and the clinic. The project will involve understanding the mechanisms of how these diseases progress and why the central nervous system is predominantly affected. There will be the opportunity to work at collaborators laboratories and to be involved in both cell and tissue models of disease.
The theme aims to:
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