The Courier & Advertiser (Perth and Perthshire Edition)

Researcher­s gain insight into muscle diseases


RESEARCHER­S AT Dundee and St Andrews universiti­es have produced new insights into two muscle wasting diseases, including ‘floppy baby syndrome’, the leading genetic cause of death in children.

Their findings have cast further light on how the genetic defect that causes the syndrome — Spinal Muscular Atrophy — actually works, an important step in looking for cures.

SMA is a type of motor neuron disease, affecting 1 in 6000 births. The most severely affected children die before the age of two.

The Dundee and St Andrews researcher­s also looked at Myotonic Dystrophy Type 1, an inherited form of muscular dystrophy that causes progressiv­e muscle weakness and wasting together with a variety of other symptoms.

Their research has establishe­d that a particular problem in cells previously thought to have played a key role in causing the symptoms of the condition is unlikely to be the sole cause.

“For both of these diseases, the genetic defect that causes them has been known for years, but it’s not yet clear how the faults damage cells and causes the symptoms,” said Dr Judith Sleeman of St Andrews University.

The work on SMA is published in the Journal of Cell Science, and work on myotonic dystrophy appears in the Biochemica­l Journal.

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