Mitochondria are found in every cell in the human body and function like tiny batteries, converting energy locked in food into a form that can be used by the cell. These tiny batteries contain their own genetic information (mtDNA) that is passed from mother to child, and acts as a blueprint for parts of the enzymes crucial for the energy conversion process. Genes stored in the nucleus of the cell are also important for normal mitochondrial function. Disruption of either mtDNA or nuclear DNA (nDNA) can cause the batteries to fail, resulting in mitochondrial disease.

Mitochondrial disease affects at least 1 in 6500 people in the UK and commonly leads to symptoms of fatigue, weakness, unsteadiness, swallowing difficulties, stroke-like episodes, seizures, acidosis and heart disease. Recognition of mitochondrial disease is a significant clinical problem and many of the different forms of the disease are still being characterized as virtually any body organ can be affected. At present no cure is available and symptoms are treated with conventional medicines that have not been assessed in patients specifically with mitochondrial disease.

The Mitochondrial Disease Patient Cohort will define a cohort of 1000 patients, (adults and children), in whom mitochondrial disease has been identified clinically and/or genetically. Our aims in developing this cohort are to translate improvements in our understanding of the science of mitochondrial disease into direct health benefits for patients. We also want to further our understanding of mitochondrial disease mechanisms and transmission and to evaluate (and optimise) the treatment of complications such as stroke, seizures, diabetes, poor growth and heart disease in patients with mitochondrial disease. The cohort will also be a rapidly accessible resource for assessing novel clinical interventions such as drugs targeted to mitochondria and exercise therapy.

The cohort is managed through the Medical Research Council (MRC) Centre for Translational Research in Neuromuscular Disease. Data collected will be managed and stored responsibly and patient care will be unaffected by their decision to enrol in the cohort or not. Patients are required to sign a consent form prior to their anonymised data being entered on to the cohort.

For further information on the MitoCohort, or to be part of it, please email: mitonews@ncl.ac.uk.