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Harnessing the power of stem cells to unlock the secrets of motor neuron disease
Date:5/23/2010

urons. As a result, we will be able to home in on the pivotal biochemical pathways that are altered in motor neuron disease, opening up promising new treatment strategies."

The research

The principal aim of the Association's 800,000 three-year programme is to develop and characterise human brain cells, derived from the skin cells of MND patients with the hereditary TDP-43 form of the disease and also from 'control' donors who do not have MND and carry the normal TDP-43 gene.

The TDP-43 gene appears to be a direct cause of MND in around 1% of cases but the protein that the gene produces is found in up to 90% of MND cases. This discovery has been described as 'a seismic shift' in understanding the disease, as it points to TDP-43 playing a pivotal role in many forms of MND. The TDP-43 protein has also been implicated in other conditions - in particular some forms of dementia - so it may prove to play a contributory role in a wider number of neurodegenerative diseases. (For further information on TDP-43 and its role in this programme please see the background briefing paper.)

The skin cells are initially 'reprogrammed' to generate induced pluripotent stem cells (iPS cells) which are very similar to stem cells derived from human embryos. The iPS cells can then be induced to turn into either of the two main cell types known to be involved in the disease: the motor neurons which degenerate in MND; and other vital support cells called astrocytes.

Although it is the motor neurons that die in MND, it is known that the disease is not solely restricted to these cells. The support cells that normally play a role in nurturing motor neurons can inadvertently cause damage, and it is through this mechanism that scientists believe that the disease spreads from one part of the brain and spine to the next.

The MND Association's programme will address a fundamental question of whether the support cells from healthy or TDP
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Contact: Louise Coxon
louise.coxon@mndassociation.org
44-776-076-5142
University of Edinburgh
Source:Eurekalert

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