Here’s what we told the world’s journalists last week. You can use Google News to see what they made of our briefing.
Please cite Nature Genetics as the source of the following item. If publishing online, please carry a hyperlink to https://www.nature.com/naturegenetics.
Consortium tackles the genetic basis of autism
The genomes of the largest collection of families with multiple cases of autism ever assembled have been scanned in a new study. The results provide new insights into the genetic basis of autism, according to a report published online this week in Nature Genetics.
Autism spectrum disorders (ASD) influence social interaction and communication and affect 6 out of every 1,000 children. The Autism Genome Project Consortium — comprising 50 centers in North America and Europe — collected DNA samples from nearly 1,500 families, each of which has more than two members with ASD.
The team carried out a two-fold analysis. First they assessed the frequency of alterations in copy number of different segments of the genome, finding an unexpectedly high percentage of the families — 7 to 12%, depending on how the analysis was done — in which all affected individuals share possibly detrimental chromosomal abnormalities. Two female siblings had deletions of the gene encoding the protein neurexin 1, which interacts with neuroligins — a family of proteins that have been implicated in some cases of autism. Finally, the authors carried out a ‘linkage’ analysis of these families, searching for regions of the genome that might be shared by the individuals with ASD. One particular region on chromosome 11 was identified, which has not previously been reported to harbour genes that affect risk of developing autism.
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Scientists React To Autism Paper As Published In Nature Genetics
Professor John Burn, Medical Director & Head of Institute, Institute of Human Genetics, University of Newcastle, said:
“This is fantastic news. We have been waiting for the log jam to break on this for several years. There will almost certainly be an interaction between several genes so this one discovery doesn’t provide a complete answer and may not lead straight to a genetic test but it could be a key step in development for effective treatments as it provides a target for drug development.”
Dr Fred Kavalier of the British Society for Human Genetics said:
“Autism and related disorders affect up to 1 in 100 British children. There is not one specific gene that causes autism, but there a large number of genes that contribute to it. This new research has identified new genes that make up part of the complicated autism jigsaw. Further research will be needed to understand these genes better, in the hope that they will be useful in designing new treatments in the future. A cure for autism is a long way off, but this is one small step in the right direction.”
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