The Mitochondrial Diagnostic Service is situated within the Mitochondrial Research Group laboratories of the Medical School and has been providing a comprehensive, diagnostic and clinical management service for patients with suspected mitochondrial disease for over 10 years.
Awarded National Specialist Commissioning (NCG) funding from the Department of Health in 2007, the laboratory works together with colleagues based at UCLH NHS Foundation Trust and Oxford Radcliffe Hospitals NHS Trust to provide specialist clinical and diagnostic investigations – the Rare Mitochondrial Disorders Service for Adults and Children. The Clinical Service is led by Professor Doug Turnbull, whilst Professor Rob Taylor heads the laboratory service (http://www.mitochondrialncg.nhs.uk/).
The laboratory diagnosis of mitochondrial disease involves many components including muscle histochemistry, biochemistry and molecular genetic analysis. Muscle histochemistry is particularly valuable since the presence of ragged-red fibres and cytochrome c oxidase (COX) deficient muscle fibres provide important clues as to likely involvement of the mitochondrial genome. Molecular genetic analysis of the mitochondrial genome is complicated by heteroplasmy (presence of both wild-type and mutated mtDNA) and the requirement to screen affected tissues.
Our diagnostic algorithms include screening for known point mutations associated with specific phenotypes, characterising mtDNA rearrangements and in some patients sequencing the entire mitochondrial genome to search for rare or novel mutations. An increasing number of nuclear genetic defects have been described causing isolated or multiple respiratory chain defects, which in some cases can lead to secondary changes in the mitochondrial genome including mtDNA depletion syndromes and multiple mtDNA deletions.
The laboratory is recognised as one of the leading mitochondrial diagnostic centres in the world, and has authored the CMGS Best Practice Guidelines for the molecular genetic investigation of patients with suspected mitochondrial disease.
Professor Rob Taylor (Head of Laboratory)
Dr Emma Watson (Clinical Scientist)
Dr Langping He (Clinical Scientist)
Mrs Charlotte Alston (Clinical Scientist)
Mr Gavin Falkous (Biomedical Scientist)
Mrs Angela Baker (Biomedical Scientist)
Dr Kate Hickman (Genetic Technologist)
Miss Sylvie Reid (Medical Laboratory Assistant)
Mrs Jane Brown (Administrator)
Professor Doug Turnbull (Consultant Neurologist)
Dr Bobby McFarland (Consultant Paediatric Neurologist)
Professor Patrick Chinnery (Consultant Neurologist)
Dr Andrew Schaefer (Consultant Neurologist)