Cambridge Clinical Mitochondrial Research Group
The Cambridge Clinical Mitochondrial Research Group studies the genetic basis and mechanisms of mitochondrial diseases, including mitochondrial eye diseases, and other rare inherited neurological disorders, such as Charcot-Marie-Tooth disease and spastic ataxias. Our aim is to provide a precise diagnosis and to discover new treatments.
Mitochondrial diseases are genetic disorders that impair the energy production in our cells, affecting about 1 in 5,000 people in the UK. They cause progressive disease that often leads to significant disability and sometimes a reduced life expectancy.
Mitochondria are the cell’s powerhouses and mutations in the genetic code responsible for mitochondrial function cause mitochondrial disease. These mutations affect either nuclear DNA or mitochondrial DNA (mtDNA), decreasing the amount of energy (ATP) produced in the cell, and resulting in its premature death. However, despite having the same basic biochemical basis, the symptoms of mitochondrial disease can be very diverse, involving various combinations of tissues and organs, and appearing at any stage of life from birth to old age. It seems that some tissues and stages of life are relatively protected from mitochondrial dysfunction, while others are more susceptible.
The brain and the eyes are the main focus of our Research Group as they are frequently affected by mitochondrial disease, with a major impact on health.
Our research programme aims to better understand the mechanisms of mitochondrial diseases, and to develop new and effective treatments for patients affected with mitochondrial disease through investigator-led experimental medicine studies, novel gene therapy approaches, and clinical trials in partnership with the pharmaceutical industry
Our objectives are to gain a better understanding of:
• the mechanisms of mitochondrial and neurodegenerative diseases, including their genetic basis.
• why specific cell types, tissue and organs are so vulnerable in mitochondrial diseases and how cells and tissues respond to mitochondrial dysfunction.
• the major nuclear and mitochondrial genetic factors that modulate the clinical expression of mitochondrial disorders, thus explaining the disease mechanisms and variable phenotype.
• the natural history of mitochondrial and neurodegenerative diseases
We also aim to provide novel insight for other conditions where mitochondrial dysfunction plays a role too, including diabetes and cancer.