Detecting and monitoring treatment for genetic energy metabolism diseases

  • Newcastle University

  • Metabolism diseases

  • 2007-2008

The research

syringesChildren with energy metabolism diseases are likely to suffer from a wide range of medical conditions such as neurological and developmental disorders, diabetes, liver failure, respiratory problems and many types of muscle disorders.

 In many cases the energy centres in our cells, the mitochondria, are faulty.  These are known as the ‘cell batteries’ of the body because they convert the energy from the food we eat into a form that our body can use.  When the mitochondria don’t function properly, less energy is generated within the cell.  This can lead to cell injury or death; if this process is repeated throughout the body, whole systems or organs can begin to fail.

Children suffering from energy metabolism abnormalities are often very unwell and present with numerous medical conditions before they are tested for the disorder. Previously, testing involved invasive muscle biopsies which could be very distressing for both the children and their parents.


 Funding from Sparks enabled Professor Robert Taylor and his team at Newcastle University to show that cells excreted in urine from affected children contained high levels of mitochondrial mutations.  The team have developed a new, non-invasive and much less distressing diagnostic test for these abnormalities.  These urine tests can be used after initial diagnosis to help monitor how well patients are responding to treatment. Information obtained is also of great importance when offering genetic counselling to parents with children who have the disease. The work of Professor Taylor’s team has become best practice in UK laboratories, and this diagnostic approach is now used in many hospitals for detecting certain genetic defects in energy metabolism.

Professor Robert Taylor said:  “Sparks has supported us in the development of robust diagnostic tests which are now used widely in clinical practice. This has allowed us to accurately refine the prevalence of mtDNA disease and use this test to understand how mutation levels determine clinical outcome. Furthermore, it has led to the development of further research avenues using mutations as markers of stem cell niches in prostatic and urothelial tissues.”

Sparks continues to fund vital research into children’s medical conditions. Find out more about our current projects or get involved in our fundraising events today.