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.
Source: By King's College London
