Queen Square Centre for Neuromuscular Diseases


London Mitochondrial Centre

Primary mitochondrial diseases are genetic disorders that cause dysfunction of mitochondria, the ‘batteries’ that provide energy to cells. They can affect people at any stage in life, from infancy to old age, and cause a wide range of symptoms. The London Mitochondrial Centre encompasses the London NHS Highly Specialised Service for Rare Mitochondrial Disorders and the translational research activity undertaken by this service.

The National Hospital for Neurology and Neurosurgery, Queen Square, has a long tradition of diagnosing and treating people with mitochondrial disease. One of the first genetic causes of mitochondrial disease was identified at UCL Queen Square Institute of Neurology by Professor Anita Harding, Dr Ian Holt, and Dr John Morgan-Hughes in 1988. Today, Queen Square remains a centre of excellence in mitochondrial disease and offers a range of clinical, diagnostic, and research services.

The history of mitochondrial disease at Queen Square

NHNN architects drawing 1883
Queen Square academics, Professor Anita Harding, Dr Ian Holt, and Dr John Morgan Hughes, were the first to link mutations in Mitochondrial DNA to human disease. They identified mitochondrial DNA deletions as a major cause of mitochondrial myopathy. These findings were published in the highly influential journal ‘Nature’ in 1988. This important discovery opened a new chapter in neurogenetics. Since the 1988 Nature paper, there have been thousands of publications linking mitochondrial DNA to different human diseases. Our team strives to continue this tradition as a leader in clinical care and research for people affected by mitochondrial diseases. 


Professor  Anita Harding

anita harding

Dr John Morgan Hughes 

john morgan hughes

Holt, I., Harding, A. & Morgan-Hughes, J. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathiesNature 331, 717–719 (1988).

mitochondrial figure
Image copyright: Nature Publishing Group