New findings in the research of motor neuron disease (MND) have been published in the journal Science which have greatly furthered understanding of the disease.
MND is a currently incurable degenerative disorder in which motor neurons are killed so that muscles in the body are unable to be used, resulting in muscle wasting. The mind is usually unaffected, but the body has difficulties with limb mobility, speech, swallowing and breathing. The disease can affect any person at any age, and is not always inheritable. It affects about two in 100,000 people.
A team of British and Australian scientists, led by researchers at King's College London, studied a large family affected by a rare inherited form of the disease, called amyotrophic lateral sclerosis (ALS). They found that a single gene with a mutation was involved, the gene coding for the protein TDP-43. This protein was already known to accumulate in neurons in the disease. The discovery now indicates that this is not just an innocent by-product of the disease, but a critical event in the disease process, as it causes neurons to self-destruct.
Professor Chris Shaw led the team at King's College. He says the results are a 'major leap' in the right direction of curing the disease. They are the most significant since the last discoveries were made in 1993, when a gene was first linked to the disease.
The disease is related to other neurodegenerative diseases, namely Parkinson's disease, variant CJD (Creutzfeldt-Jakob disease) and Alzheimer's disease. Previously, scientists did not know the cause of over 95 per cent of cases, although genetic factors were known to be involved. Drugs for treating the disease are based on another protein, called SOD, from a gene known to be involved, but have not been beneficial to patients thus far, which triggered a push for more information.
The results can now be used to develop cellular and animal models, vital tools for scientists to study the disease, giving them a 'real chance of understanding how motor neurons degenerate', said Professor Shaw. 'This could dramatically accelerate the drug screening process', he added.
Brian Dickie is the director of research development at the MND Association, which partly funded the study. He said that he is excited by the findings, and that they are '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'.