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Gene gives motor neurone disease insight

A discovery using stem cells from a patient with motor neurone disease could help research into treatments for the condition.

The study used a patient’s skin cells to create motor neurons - nerve cells that control muscle activity - and the cells that support them called astrocytes.

Astrocyte death

Researchers studied these two types of cells in the laboratory. They found that a protein expressed by abnormalities in a gene linked to motor neurone disease, which is called TDP-43, caused the astrocytes to die.

The study, led by the University of Edinburgh and funded by the Motor Neurone Disease Association, provides fresh insight into the mechanisms involved in the disease.

Gene mutation

Although TDP-43 mutations are a rare cause of motor neurone disease (MND), scientists are especially interested in the gene because in the vast majority of MND patients, TDP-43 protein (made by the TDP-43 gene) forms pathological clumps inside motor neurons.

Motor neurones die in MND leading to paralysis and early death.

This study shows for the first time that abnormal TDP-43 protein causes death of astrocytes.

The researchers, however, found that the damaged astrocytes were not directly toxic to motor neurons.

Motor neurone disease is a devastating and ultimately fatal condition, for which there is no cure or effective treatment. -Professor Siddharthan Chandran (Director of the Euan Macdonald Centre for Motor Neurone Disease Research)


Better understanding the role of astrocytes could help to inform research into treatments for motor neurone disease (MND).

These findings, published in the journal Proceedings of the National Academy of Sciences, are significant as they show that different mechanisms are at work in different types of MND.

It is not just a question of looking solely at motor neurons, but also the cells that surround them, to understand why motor neurones die. Our aim is to find ways to slow down progression of this devastating disease and ultimately develop a cure. -Professor Siddharthan Chandran (Director of the Euan Macdonald Centre for Motor Neurone Disease Research)


Filed under motor neurone disease motor neurons nerve cells stem cells mutations cells neuroscience science

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