Breakthrough in study of motor neurone disease
Human nerve cells carrying a critical mutation linked with motor neurone disease have been created in the laboratory for the first time from the skin cells of affected patients. The breakthrough could lead to new treatments for the debilitating disease.
Scientists hope that mutated nerve cells, grown from a patient's skin cells after first being transformed into stem cells, will allow them to perform new types of laboratory experiments that will lead to a better understanding and possibly a cure for a disease that affects around 5,000 people in Britain and kills about five people every day.
Research into motor neurone disease, a paralysis of the nervous system leading to the wasting of the muscles controlling breathing and swallowing, has been severely hampered by the lack of a good laboratory "model" of the disease.
Growing human motor nerves – the cells that conduct messages from the brain and spinal cord to the muscles – carrying a mutation known as TDP-43 could open the way to finding the precise cause of the disorder as well as possible therapies that could prevent or slow damage to the nervous system, scientists said.
"Being pragmatic, slowing down the disease is the first aim, stopping the disease the second, and the home run is to restore function," said Professor Siddharthan Chandran of the University of Edinburgh, the principal investigator on a new £800,000 research project. The team also includes Sir Ian Wilmut, the scientist who cloned Dolly the sheep.
Life expectancy for people diagnosed with motor neurone disease is short, around two to five years, and about half of those newly diagnosed die within 14 months.
A protein produced by the gene TDP-43 is found in about 90 per cent of sufferers, suggesting that the gene plays a critical role in the molecular changes that cause a healthy nerve cell to degenerate.
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