News & Events
New mutation raises hope for dramatic advances in MND research
28 February 2008
A collaborative research project partly funded by the Motor Neurone Disease (MND) Association and led by Professor Chris Shaw at the Institute of Psychiatry, King’s College London, has yielded a significant advance in MND research.
Researchers have found that mutations in a gene coding for the ‘TDP-43’ protein causes MND in one 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.
Professor Shaw says: “We are very excited by this discovery. The new gene mutations tell us that the TDP-43 protein, which accumulates abnormally in MND, can be directly toxic to 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.”
Brian Dickie, Director of Research Development at the MND Association, 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 (ALS), which is a form of MND.
If you are affected by MND and would like to know more about this research paper, read our News in Research article.
Researchers have found that mutations in a gene coding for the ‘TDP-43’ protein causes MND in one 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.
Professor Shaw says: “We are very excited by this discovery. The new gene mutations tell us that the TDP-43 protein, which accumulates abnormally in MND, can be directly toxic to 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.”
Brian Dickie, Director of Research Development at the MND Association, 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 (ALS), which is a form of MND.
If you are affected by MND and would like to know more about this research paper, read our News in Research article.
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Notes to editors
- Sreedharan J, Blair IP, Tripathi VB et al, TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis, Science, published online 28 February 2008; 10.1126/science.1154584.
