New hope in fight against autism
aberdeen university breakthrough shows gene abnormality is behind brain disorder
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Scientists at a north-east university have made a historic breakthrough in the fight against autism which could pave the way for pioneering treatment of the brain disorder.
Research by experts in Aberdeen showed that abnormalities in the EIF4E gene – vital for learning and memory – can be blamed for the condition, which affects thousands of Scots.
The Aberdeen University team, which focused the research on a severely autistic child, say the breakthrough could bring fresh hope for some families living with the condition.
The news was welcomed last night by a national autism charity and a north-east school which caters for children with complex needs.
The child at the centre of the Aberdeen University study, who has not been named, attended Aberdeen Royal Infirmary’s genetics clinic where he was found to have a rare re-arrangement of chromosomes.
Using genetic mapping techniques, the researchers discovered that the re-arrangement had disrupted the EIF4E gene.
The team looked at the make-up of EIF4E in 120 other families with autism. They found that four children from two families also had abnormalities in this gene.
In these four cases an abnormal extra “building block” in the gene was found to be disrupting the normal balance of protein production by brain cells.
This imbalance makes the brain more prone to the repetitive thought processes that are seen in autism.
Being able to correct EIF4E abnormalities could improve symptoms of autism, the scientists believe.
Dr Zosia Miedzybrodzka, reader in medical genetics at the university and honorary clinical geneticist at NHS Grampian, led the research.
She said: “We are very excited to have made the link between autism and a gene that is already known to play a key role in memory and learning.
“Our finding paves the way for development of new treatments for this common and upsetting condition.”
Carol Evans, national director for Scotland and Northern Ireland at the National Autistic Society Scotland, welcomed the findings.
“Autism is a serious, lifelong condition which affects the way people understand and communicate with the world around them,” she said.
“We warmly welcome authoritative research which might add to our knowledge and understanding of autism, and which could therefore benefit the 50,000 people in Scotland with autism.”
Sharon Napier and Karen Gebbie-Smith, joint heads of Linn Moor School, Aberdeen, which caters for children with autism, said: “It is wonderful to hear that people are continuing to invest in and investigate the causes of autism, and every discovery moves us towards a greater understanding of this complex, worldwide condition that affects so many people.”
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