The Mitochondrial Group

The Mitochondrial Research Group (MRG) has developed into a major centre in Newcastle, which aims to use molecular and cell biology techniques to understand inherited neuromuscular diseases.

Our principal interest is human mitochondrial disorders, which are amongst the most common genetic diseases, affecting around 1 in 5000 people. Our work combines basic and applied science to further understand and develop treatments for patients with mitochondrial diseases.

Mitochondrial disorders are rare genetic conditions affecting a variety of organs, but in particular the central nervous system and muscles.  Diagnosis is often difficult because of the wide range of symptoms and the complexity of the biochemical and genetic tests involved.

Newcastle is one of only a handful of specialist neurosciences centres in the UK to offer a comprehensive service for both adults and children suspected or diagnosed as having a rare mitochondrial disease.  We offer a national service and we see patients from all over the world.

Our basic research focuses on understanding mitochondrial gene expression, nuclear-mitochondrial interaction, role of mitochondria in neurodegeneration and importance of mitochondrial DNA mutations in ageing and cancer. We have recently been awarded funds to investigate the importance of mitochondrial abnormalities in Multiple Sclerosis.

We are building upon recent achievements to foster clinical and basic research that aims to provide further support for patients through our clinical research programme.

The group attracts a high calibre of postgraduate students (PhD and MD) and post-docs and our research has evolved into a major translational focus. We are working with industrial partners to develop new treatments for mitochondrial disease. We have recently begun clinical trials in Newcastle using two agents which show great promise.

Principle Investigators

Doug Turnbull leads the Mitochondrial Research Group at Newcastle. His main research interest focus on faults in mitochondria, the “batteries” within cells that create energy. Defective mitochondria can cause around 150 known diseases and around one person in every 6,500 is affected by such conditions, which include fatal liver failure, stroke-like episodes, blindness, some forms of epilepsy, muscular dystrophy, diabetes and deafness. Doug Turnbull’s team recently attracted world-wide attention after demonstrating that it is possible to bypass these diseases by replacing defective mitochondrial “batteries” in unfertilised human eggs.

Robert Taylor is a Professor of Mitochondrial Pathology and Head of the Mitochondrial Diagnostic Service at Newcastle. Robert’s laboratory provides a national diagnostic service offering specialist testing for patients with suspected mitochondrial disorders. Robert’s research focuses on the underlying molecular mechanisms of mitochondrial disease and seeks to link specific disorders with mitochondrial genotypes.

Robert Lightowlers is a Professor of Molecular Neuroscience and a member of the Mitochondrial Research Group at Newcastle. His main interests focus on the role of mitochondria in health and disease. Robert’s current projects include research on aspects of genetic expression and molecular aetiology in mitochondrial disease and ways of treating these disorders.

Bobby McFarland is a Senior Clinical Scientist with the Mitochondrial Research Group at Newcastle. His work centres on the identification and molecular characterisation of homoplasmic pathogenic mutations in mitochondrial tRNA genes.

Roger Whittaker’s clinical and research interest is in the neurophysiology of mitochondrial diseases. These inherited conditions are associated with an increased risk of epilepsy, peripheral neuropathy, neuromuscular junction abnormalities and myopathy. His interest is in characterising the clinical aspects of these complications, investigating the underlying pathophysiology and in developing techniques to determine which patients are most at risk of developing them. He holds an Honorary Clinical Senior Lecturer position in the Institute of Neuroscience, Newcastle University.

Grainne Gorman The aim of my research is to devise and facilitate the prescription of safe and effective exercise protocols into clinical practice which will support people with mitochondrial myopathies to sustain a more physically active lifestyle, whilst targeting the underlying disease mechanisms in a condition, which, currently there are no known cures and few effective treatments.

Andrew Schaefer I help run the Newcastle Mitochondrial Clinic and the clinical service for our patients. Research interests include the importance of understanding the natural history of the mitochondrial disorders, phenotype-genotype correlations and determining best clinical practice. To this end I have previously published on the prevalence of the mitochondrial disorders, the development of a clinical rating scale to assess both disease progression and response to treatment, and am clinical lead on the development of best practice guidelines in mitochondrial disease.

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