A breakthrough using cutting-edge stem cell research could speed up the discovery of new treatments for motor neuron disease (MND).
The international research team has created motor neurons using skin cells from a patient with an inherited form of MND.
Role of protein
Using patient stem cells to model MND in a dish offers untold possibilities for how we study the cause of this terrible disease as well as accelerating drug discovery by providing a cost-effective way to test many thousands of potential treatments said Professor Siddharthan Chandran, Director of the University's Euan MacDonald Centre for MND Research.
The study discovered that abnormalities of a protein called TDP-43, implicated in more than 90 per cent of cases of MND, resulted in the death of motor neuron cells.
This is the first time that scientists have been able to see the direct effect of abnormal TDP-43 on human motor neurons.
The study, led by the University of Edinburgh's Euan MacDonald Centre for Motor Neuron Disease Research, was carried out in partnership with King's College London, Columbia University, New York and the University of San Francisco.
Motor neuron disease
MND is a devastating, untreatable and ultimately fatal condition that results from progressive loss of the motor nerves -- motor neurons -- that control movement, speech and breathing.
The study, funded by the MND Association, is published in the journal Proceedings of the National Academy of Sciences.
This advance is a significant milestone on the road to developing a laboratory model of MND that faithfully reflects the cellular events happening in the patient. It is also a testament to the importance of international collaboration, with eminent scientists from leading institutions around the world focused on the common goal of understanding and, ultimately, defeating this devastating disease, said Dr Brian Dickie, Director of Research and Development for the MND Association.
- B. Bilican, A. Serio, S. J. Barmada, A. L. Nishimura, G. J. Sullivan, M. Carrasco, H. P. Phatnani, C. A. Puddifoot, D. Story, J. Fletcher, I.-H. Park, B. A. Friedman, G. Q. Daley, D. J. A. Wyllie, G. E. Hardingham, I. Wilmut, S. Finkbeiner, T. Maniatis, C. E. Shaw, S. Chandran. Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability. Proceedings of the National Academy of Sciences, 2012; DOI: 10.1073/pnas.1202922109
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