It has been providing a:
- clinical management
service for patients with suspected mitochondrial disease for more than 10 years. We gained national commissioning group (NCG) funding from the government in 2007.
The lab works with UCLH NHS Foundation Trust and Oxford Radcliffe Hospitals NHS Trust. Together they provide specialist clinical and diagnostic investigations. This is the Rare Mitochondrial Disorders Service for Adults and Children.
Professor Doug Turnbull leads the clinical service. Professor Rob Taylor heads the laboratory service.
The laboratory diagnosis of mitochondrial disease involves many components, including:
- muscle histochemistry
- molecular genetic analysis
Muscle histochemistry is particularly valuable. Presence of ragged-red and cytochrome c oxidase (COX) deficient muscle fibres provide clues. They suggest likely involvement of the mitochondrial genome.
Heteroplasmy complicates the molecular genetic analysis of the mitochondrial genome. There is the need to screen affected tissues.
Our diagnostic algorithms include:
- screening for known point mutations associated with specific phenotypes
- characterising mtDNA rearrangements
- in some patients sequencing the entire mitochondrial genome to search for rare or novel mutations
Many nuclear genetic defects have caused isolated or several respiratory chain defects. In some cases, this can lead to secondary changes in the mitochondrial genome. These include mtDNA depletion syndromes and multiple mtDNA deletions.
The laboratory is one of the leading mitochondrial diagnostic centres in the world.
It has authored the CMGS Best Practice Guidelines. This is 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)