Stem Cell Breakthrough May Provide New Options for Treatment of Motor Neuron Disease

An international group of researchers has created motor neurons using skin cells from a patient with an inherited form of motor neuron disease (MND). The scientists demonstrated that abnormalities of a protein called TDP-43, implicated in more than 90% of cases of MND, resulted in the death of motor neuron cells. This is the first time that scientists have been able to validate the direct effect of abnormal TDP-43 on human motor neurons.

The study, led by the University of Edinburgh’s (UK) Euan MacDonald Centre for Motor Neuron Disease Research, was performed in collaboration with King’s College London (UK), Columbia University (New York, NY, USA), and the University of San Francisco (CA, USA).

MND is a debilitating, untreatable, and ultimately lethal disorder that results from progressive loss of the motor nerves--motor neurons--that control speech movement, and breathing. Prof. 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.”

The study, funded by the MND Association (Northampton, UK), was published ahead of print March 26, 2012, in the journal Proceedings of the National Academy of Sciences of the United States of America (PNAS). 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.”

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University of Edinburgh
King’s College London
Columbia University