Gene linked to causes of autism

The new gene linked to autism gives hope for the future

Abnormalities in a gene important for learning and memory have been identified as a cause of autism, according to medical researchers.

The University of Aberdeen findings could hold the key to the future development of new treatments.

Researchers said it was another step forward in understanding the disorder.

It has been estimated that about 50,000 people in Scotland have the condition which affects how a person communicates and relates to others.

Rare chromosomes

In a study published in the Journal of Medical Genetics, the scientists explained how their investigations into the gene EIF4E began with the study of one child with severe autism.

The boy attended Aberdeen Royal Infirmary's Genetics Clinic where he was found to have a rare re-arrangement of chromosomes.

Using state-of-the-art genetic mapping techniques, researchers went on to discover that the re-arrangement had disrupted the EIF4E gene.

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 Dr Zosia Miedzybrodzka University of Aberdeen

The team then looked in more detail 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.

Dr Zosia Miedzybrodka, reader in medical genetics, said:"Our discovery is particularly important because several genetic signalling pathways, already known to cause autism, are channelled through this gene.

"Our finding paves the way for development of new treatments for this common and upsetting condition."

The parents of the child with the rare re-arrangement of chromosomes, who wish to remain anonymous, said: "The team have done a brilliant job and we are delighted that the work that started with our son brings such hope for the future".

The research was funded by the Scottish Government's Chief Scientist Office, NHS Grampian, University of Aberdeen and an anonymous donation to the University's Development Trust.