New insights into the genetics behind autism
February 2007Researchers from the School of Medicine have played key roles in the international Autism Genome Project, which has scanned the genomes of the largest collection of families with multiple cases of autism ever assembled.
The mammoth project was carried out by more than 120 scientists across 19 countries, including molecular geneticist Dr Janine Lamb, statistician Professor Andrew Pickles and child psychiatrist Professor Jonathan Green who led the fieldwork in Manchester. Preliminary results are published in the March issue of Nature Genetics, and provide new insights into the genetic basis of autism.
In 2002 researchers from around the world decided to come together and share their samples, data and expertise to facilitate the identification of autism susceptibility genes. Working with an unprecedented sample of 1,200 families, they used ‘gene chip’ technology to look for genetic similarities in autistic people.
The project also scanned the families’ DNA for ‘copy number variations’ (CNVs) or sub-microscopic genomic insertions and deletions, which scientists believe might play a part in this and other common diseases.
Combining these two approaches has implicated both a previously unidentified region of chromosome 11 and neurexin 1, a member of a gene family believed to be important in the communication of neurons. The neurexin finding pinpoints a group of neurons called glutamates and the genes affecting their development and function, and suggests they may play a critical role in autism spectrum disorders.
The Manchester researchers’ participation links to a wider programme of autism research led by Professors Pickles and Green, including national and international developmental studies and trials of autism interventions.
“Autism is a very difficult condition for families,” Professor Green said. “Communication is taken for granted by parents of healthy children, but is greatly missed by those with autistic children.
“We are working to investigate the basic science and develop and test new treatments, and hope that these exciting results may represent a step on the way to further treatment approaches in the future.”
The £7.5million second phase of the project is now being launched, and will scan the genome for association with new genetic markers and CNVs along chromosomes. Its findings will guide DNA sequencing experiments designed to pinpoint underlying changes in DNA sequences in autism susceptibility genes.
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