Genetic links to autism identified in massive genome search
18 February 2007
Peter Menzel/Science Photo Llibrary
DNA from the largest collection of families with multiple cases of autism ever assembled has been scanned and the preliminary results of this mammoth effort are published in Nature Genetics (February 18, 2007). They provide new insights into the genetic basis of autism. The search for genes linked to autism is a major part of the Medical Research Council’s research strategy in the area.
The research was performed by more than 120 scientists representing 50 institutions in 19 countries. In the UK, work was carried out at the University of Oxford, the Institute of Psychiatry at King’s College, London, Guy’s Hospital, the University of Manchester and the University of Newcastle.
This international collaboration of scientists started in 2002 when researchers from around the world decided to come together and share their samples, data, and expertise to facilitate the identification of autism susceptibility genes. Together they formed the Autism Genome Project.
The world-wide consortium of scientists made the most of its large sample of 1,200 families. They used “gene chip” technology to look for genetic similarities in autistic people. The AGP also scanned DNA from these families for copy number variations (CNV), or sub-microscopic genomic insertions and deletions that scientists believe might be involved with this and other common diseases.
The innovative combination of these two approaches implicates a previously unidentified region of chromosome 11, and neurexin 1, a member of a family of genes believed to be important in the contact and communication of neurons. The neurexin finding in particular highlights a special group of neurons, called glutamate neurons, and the genes affecting their development and function, suggesting they play a critical role in autism spectrum disorders.
The first phase of the effort – the assembly and scanning of the largest autism DNA collection ever – was funded by Autism Speaks, a non-profit organisation dedicated to increasing awareness of autism and raising money to fund autism research, and the US National Institutes of Health.
Phase two of the project, which will build on the success of the scan, is also being launched today. It represents a US$14.5 million (£7.44 million) investment over three years, by Autism Speaks, the UK Medical Research Council (MRC), the Health Research Board of Ireland (HRB), and a number of other funders around the world. This unique combination of international, public and private partners funding a consortium of clinicians and scientists is unprecedented in the field of autism research. The UK Medical Research Council played a key role in brokering the arrangements and assessing the science. Professor Tony Monaco from the University of Oxford’s Wellcome Trust Centre for Human Genetics led the funding bid.
“The Medical Research Council is pursuing a number of avenues to improve our understanding and treatments of autism. Identifying genes linked to autism could help us to diagnose this condition at an earlier stage. It might also spot genes which could be targeted by drugs for more effective treatment of the disease. But most importantly this genetic study will allow us to develop a better understanding of the different characteristics that come together in Autistic Spectrum Disorder, which we know has a strong genetic component,” said Professor Colin Blakemore, Chief Executive of the MRC.
Professor Anthony Bailey, from the University of Oxford and one of the principal investigators in the project, added:
“This study demonstrates the very real benefit of large numbers of scientists and clinicians working together. Pooling families and resources allowed us to detect a novel genetic link for autism. Moreover the identification of small gains and losses of genetic material associated with autism indicates a potentially important new causal mechanism. We are all now looking forward to understanding the true significance of these findings in the second phase of the study.”
Professor Green, from the University of Manchester, said:
“Autism is a very difficult condition for families – communication is taken for granted by parents of healthy children but is so greatly missed by those with autistic children. We are working to investigate the basic science and develop and test new treatments for the condition. We hope that these exciting results may be a step on the way to new treatments.”
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