Researchers identify new gene link to autism
30 April 2009
The gene, DOCK4, plays a part in the growth and development of nerve cells in the brain, and was identified by researchers from the Wellcome Trust Centre for Human Genetics at the University of Oxford, and colleagues.
Two other studies published in the journal ‘Nature’ have identified other candidate autism genes, also involved in the formation of connections between nerve cells in the brain.
“Most of the genes that have been identified in these studies are involved in the connections between neurons called synapses,“ says Professor Tony Monaco. a Wellcome Trust Principal Research Fellow at the Centre for Human Genetics.
“This does seem to fit with what we know from brain scans – that people with autism may show different or reduced connectivity between different parts of the brain.”
Autism spectrum disorders are developmental disorders emerging in early childhood, characterised by difficulties with social interactions, communication and understanding the emotions and behaviours of other people.
In the study, researchers looked at over 250 people with autism spectrum disorders and their parents. They scanned regions of chromosomes 2 and 7 that had previously been linked to an increased risk of the disorders, looking for common genetic changes.
DOCK4 on chromosome 7 was found to have the strongest link. The gene is thought to be involved in the growth of dendrites - the arms that extend from nerve cells, connecting them and helping to pass on electrical signals - in the brain.
“This new knowledge allows us to focus our studies on developing new treatments and intervention therapies for the future,” says Professor Monaco.
“These studies have implications for future diagnostic testing of autism spectrum disorders. I do believe such testing will become a possibility in the future and may offer some clinical benefit to affected children and their families.”
Image:
Caption: Child with autistic disorder
Credit: Anthea Sieveking , Wellcome Images
References
Maestrini E et al. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility. Molecular Psychiatry 28 April 2009 [published online before print]