SCIENTISTS have made a breakthrough that could lead to new treatments for the most common genetic cause of death in children.
The findings by a team led by Scots researchers is said to be a significant step towards future treatment and the greater understanding of the form of childhood motor neurone disease known as floppy baby syndrome.
Professor Simon Parson, Chair in Anatomy at Aberdeen University, and colleagues at Edinburgh, Oxford and University College London, have, for the first time, shown that insufficient blood supply likely contributes to motor neurone loss in the childhood disease, spinal muscular atrophy.
Motor nerve cells (above green) and blood vessels (red) in the spinal cord.
Normally (left), many blood vessels are adjacent to the motor nerve cell, but in SMA (right) the numbers of blood vessels are dramatically reduced.
This results in low oxygen levels, which will damage the motor nerve cells.
In a paper published in Annals of Neurology, the professor describes how his research suggests that expanding the focus beyond the nervous system to include the vascular system is important for developing effective treatments for the disease.
SMA is the most common inherited cause of infant death in the world and affects one in 6,000 births.
It is usually diagnosed when infants fail to reach developmental milestones such as sitting unaided.
In the most severe cases life expectancy does not exceed three years with the cause of death usually being respiratory failure.
Mr Parson, pictured below, said: “SMA presents itself like a motor neuron disease so research and treatment has been focussed mainly around protecting motor nerve cells.
“But, we have shown that in SMA, the blood vessels that course through every structure in the body are also severely affected.
“Importantly, this results in reduced delivery of oxygen to the body, including the motor nerve cells which die in SMA.
The latest findings keeps at the forefront of understanding and treating the condition, the gene for which was first identified just over 20 years ago.
Vanessa Christie-Brown, research co-ordinator at The SMA Trust, which part funded the research, said: “We are delighted to have funded Professor Parson’s work on vascular involvement in SMA.
"This is an area of research which, beyond the heart, has not been looked at in SMA.r the first time, vascular abnormalities, leading to functional defects, have been shown in patients.
"Professor Parson’s findings may identify potential targets for therapy which would benefit all individuals living with SMA.
"We look forward to following and supporting Professor Parson’s future research projects.”
Why are you making commenting on The Herald only available to subscribers?
It should have been a safe space for informed debate, somewhere for readers to discuss issues around the biggest stories of the day, but all too often the below the line comments on most websites have become bogged down by off-topic discussions and abuse.
heraldscotland.com is tackling this problem by allowing only subscribers to comment.
We are doing this to improve the experience for our loyal readers and we believe it will reduce the ability of trolls and troublemakers, who occasionally find their way onto our site, to abuse our journalists and readers. We also hope it will help the comments section fulfil its promise as a part of Scotland's conversation with itself.
We are lucky at The Herald. We are read by an informed, educated readership who can add their knowledge and insights to our stories.
That is invaluable.
We are making the subscriber-only change to support our valued readers, who tell us they don't want the site cluttered up with irrelevant comments, untruths and abuse.
In the past, the journalist’s job was to collect and distribute information to the audience. Technology means that readers can shape a discussion. We look forward to hearing from you on heraldscotland.com
Comments & Moderation
Readers’ comments: You are personally liable for the content of any comments you upload to this website, so please act responsibly. We do not pre-moderate or monitor readers’ comments appearing on our websites, but we do post-moderate in response to complaints we receive or otherwise when a potential problem comes to our attention. You can make a complaint by using the ‘report this post’ link . We may then apply our discretion under the user terms to amend or delete comments.
Post moderation is undertaken full-time 9am-6pm on weekdays, and on a part-time basis outwith those hours.
Read the rules hereLast Updated:
Report this comment Cancel