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Research breakthrough for child motor neurone disease SMA

Published on 27/02/2012

Scottish researchers have discovered that children with a form of motor neurone disease could benefit from drugs that improve their muscle strength.

Spinal muscular atrophy (SMA), also known as ‘floppy baby syndrome’, targets the body's nerve cells causing patients to have little or no control over their movements. SMA affects one in 6,000 births, and 50 per cent of those with the most severe form die before the age of two.

SMA causes muscle weakness and a progressive loss of movement. There is no cure, but therapy and support are available to help manage the condition. One in 40 people carry the genetic mutation that causes the disease.

Researchers at the University of Edinburgh now say that SMA sufferers could benefit from drugs that could improve their muscle strength.

The muscles of SMA sufferers are damaged by having low levels of a protein called SMN, caused by a genetic mutation. This mutation also disrupts the muscles’ blood supply, leading to further damage.

Led by Tom Gillingwater, the Scottish team treated mice with SMA with a class of drugs known as HDAC inhibitors. They found that treatment with these drugs increased the levels of protein in the muscle by targeting the genetic mutation.

Professor Gillingwater said: "SMA is the most common genetic cause of infant death in the western world."

"By showing the important role that muscles play in this disease, we can now focus our efforts on trying to block the disease in all affected tissues of the body."

The study's findings are published today in the journals of Human Molecular Genetics and Neuromuscular Disorders.

Researchers are now looking at whether HDAC or other drugs can be tailored to further improve muscle control and increase blood supply.

Patients with private medical insurance often have access to new drugs and procedures not available on the NHS, so compare health insurance quotes online now.

© ActiveQuote Ltd. 2012

Categories:  Medical
Research breakthrough for child motor neurone disease SMAScottish researchers have discovered that children with a form of motor neurone disease could benefit from drugs that improve their mus    tweet it on twittershare with your friends on Facebookshare with your friends on MySpaceBlog it on your LinkedIn profile

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