Mitochondrial diseases affect patients of all ages. In many ways this makes sense – the more severe the mitochondrial defect the earlier the onset is likely to be. The disease can start immediately after birth with severe muscle weakness, heart involvement and impaired overall brain function.
Unfortunately these children die in the first few days of life. More commonly mitochondrial disease presents later in childhood, in adolescence and in adulthood. In the vast majority of patients this is a progressive illness with major disability and often leads to early death (certainly in those patients who present in childhood with severe symptoms).
This research theme aims to:
- Determine the nature, mechanisms and potential therapies for patients with mitochondrial DNA disease
The main areas of Clinical mitochondrial Disease Research are: