University researchers are leading a study that will enable them to model motor neurone disease in the laboratory.
The research focuses on a gene which, while causes motor neuron disease in a small group of inherited cases, is believed to be relevant to more than 90 per cent of cases.
The research is being led by Professor Siddharthan Chandran at the University’s Euan MacDonald Centre for Motor Neurone Disease Research.
The study has received £800,000 funding from the Motor Neurone Disease Association.
It also involves King’s College London and Columbia University New York.
Bringing together the genetic revolution of the last decade with the spectacular progress in stem cell research means we can now model human disease in a dish.
Researchers are investigating a gene TDP-43, which is mutated in a small number of patients with an inherited form of the motor neurone disease (MND).
However, the protein produced by the gene is a pathological hallmark in around 90 per cent of MND cases.
It appears in clumps with dying motor neurones - nerve cells in the brain and spinal cord.
In MND these cells deteriorate leading to muscle weakness and wasting.
Scientists will model motor neurone disease in a dish by taking skin cells from patients with the hereditary TDP-43 form of the disease.
The skin cells are reprogrammed to create induced pluripotent stem cells.
These are similar to embryonic stem cells, which have the ability to form different cells in the body.
The cells will be differentiated to form motor neurones as well as support cells, which are believed to play a key role in the spread of the disease spread.
Researchers will also culture cells from ‘control’ donors who do not have MND and carry the normal TDP-43 gene.
This will also help address whether the support cells from healthy or TDP-43 mutant gene carrying patients are injurious or protective to motor neurons.
Modelling the disease in the dish would enable scientists to create a rapid and cost-effective system to test of hundreds of thousands of drugs.
This could accelerate the drug discovery process to help stop motor neurones from degenerating.
Motor Neurone Disease kills five people every day in the UK and there is no cure or effective treatment.
Around 5,000 people have MND in the UK, with life expectancy between two to five years.
The cause of the disease is unknown in more than 95 per cent of cases.
The Euan MacDonald Centre for Motor Neurone Disease Research was established in 2007, by the generosity of MND patient Euan MacDonald and his father, Donald.
It runs alongside the University’s Medical Research Council Centre for Regenerative Medicine.
This funding from the MND Association will help us to understand why specific nerves die in motor neuron disease. This is a critical next step towards the ultimate goal of developing an effective treatment.