News archive 2008

MND research breakthrough

29 Feb 2008, PR 41/08

Researchers at the Institute of Psychiatry, led by Professor Chris Shaw, have published new research in Science which heralds a significant advance in motor neurone disease (MND).  They have shown that the ‘TDP-43’ protein is directly toxic to motor neurones and causes degeneration of these cells.

MND is the name given to a group of related diseases affecting the motor neurones (nerve cells) in the brain and spinal cord. As the motor neurones gradually die, the muscles stop working. It is a rapidly progressive, fatal disease that can affect any adult at any time. The cause of MND is unknown and there is currently no known cure.

The disease affects around 5,000 people in this country alone at any one time and in the UK more than five people a day die from MND. Life expectancy for most people with MND is just two to five years, and around half will die within 14 months of diagnosis.

Chris Shaw, Professor of Neurology and Neurogenetics at King’s, and lead researcher in the project says: ‘We are very excited by this discovery. The new gene mutations tell us that the TDP-43 protein targets motor neurons, instead of being an innocent by-product of the disease process, as was previously thought. It also means we develop new and better disease models, which will bring us closer to developing more effective therapies.’

TDP-43 Protein

The researchers have found that mutations in a gene coding for the ‘TDP-43’ protein caused MND in one particular family affected by the rare, inherited form of the disease. This result follows recent research linking the accumulation of TDP-43 protein in nerve cells of people with MND but not in unaffected individuals.

Brian Dickie, Director of Research Development at the MND Association who have part funded the research, says: ‘The discovery of a new cause of the disease is of international importance, allowing researchers around the world to rapidly generate more pieces of the complex puzzle that is MND. This new information will be a spring board to greater understanding of the processes that cause motor nerves to die - and it is through such understanding that we will develop the treatment strategies to defeat this devastating disease.’

Rare mutations identified in inherited forms of Alzheimer's and Parkinson’s disease dramatically advanced research into these fields. The MND Association and MND researchers believe that mutations in TDP-43 may make a similar contribution to the study of amyotrophic lateral sclerosis, which is a form of MND.



Notes to editors

Image: EM Neurone – cross section of an end of a motor neurone

The paper is published on line in Science: 28 February 2008, 10.1126/science: 1154584.  Authors are: Sreedharan J, Blair IP, Tripathi VB et al, TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis,

For further media information please contact Louise Coxon, Communications Manager at the MND Association, on 01604 611 843 or 07831 349 408 or louise.coxon@mndassociation.org.

For more information about MND and the work of the MND Association go to www.mndassociation.org

King’s College London
King’s College London is one of the top 25 universities in the world (Times Higher 2007) and the fourth oldest in England. A research-led university based in the heart of London, King’s has 19,700 students from more than 140 countries, and 5,400 employees. King’s has an outstanding reputation for providing world-class teaching and cutting-edge research. The College is in the top group of UK universities for research earnings and has an annual income of approximately £400 million. An investment of £500 million has been made in the redevelopment of its estate.

King’s has a particularly distinguished reputation in the humanities, law, social sciences, the health sciences, natural sciences and engineering, and has played a major role in many of the advances that have shaped modern life, such as the discovery of the structure of DNA. It is the largest centre for the education of healthcare professionals in Europe and is home to five Medical Research Council Centres - more than any other university.



Further information
Louise Pratt, Communications Officer, Institute of Psychiatry
King’s College London
Tel: 020  7848 5377 louise.pratt@iop.kcl.ac.uk




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