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Stem cell study aids quest for MND therapies

Posted on 26/03/2012
Chris Shaw

Mature HB9 expressing motor neurons grown in culture from induced pluripotent stem cells from patient fibroblasts

A breakthrough using cutting-edge stem cell research could speed up the discovery of new treatments for motor neurone disease (MND). 


Researchers have discovered that key pathological events can be detected in motor neurones derived from MND patient skins cells that had been reprogrammed to become stem cells.


The study, published in the Proceedings of the National Academy of Sciences (PNAS), discovered that the presence of a mutant form of TDP-43 protein, implicated in more than 90 per cent of cases of MND, forms toxic aggregates resulting in motor neuron cell death.


This is the first time that scientists have been able to see the direct effect of abnormal TDP-43 on human motor neurons grown in the laboratory.


King’s College London’s Institute of Psychiatry was part of an international research team including the University of Edinburgh’s Euan MacDonald Centre for Motor Neurone Disease Research, Colombia University, New York and the University of California, San Francisco, one of King’s College London’s strategic university partners.


Professor Chris Shaw from King’s says: ‘This is a hugely exciting development. We can use these cells to identify fundamental disease mechanisms and start the search for drugs that can reverse the disease process.’


Professor Siddharthan Chandran, of the University of Edinburgh, said: ‘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.’


MND is a devastating, untreatable and ultimately fatal condition that results from progressive loss of the motor nerves – motor neurones – that control movement, speech and breathing.  


Dr Brian Dickie, Director of Research and Development for the MND Association, said: ‘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.’


For full paper: Bilican et al. ‘Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability’ is published in PNAS and funded by the MND Assocation.doi: 10.1073/pnas.1202922109


For more information, please contact Seil Collins, Press Officer, email: seil.collins@kcl.ac.uk or tel: 0207 848 5377

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