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Autism study identifies extensive gene pattern

10 June 2013

By Siobhan Chan

Appeared in BioNews 708

A large, complex gene network in people with autism has been identified by researchers at the University of Oxford.

The study found that autism-related genes were linked in an extensive network, showing how different genes can affect interconnected biological pathways.

Medical Research Council scientists looked at certain genes related to autistic spectrum disorders (ASD) in 181 people. Those with ASD tend to have a different number of these genes than those without autism – this is known as a copy number variation (CNV).

The researchers found that 187 genes affected by CNVs were connected in a single, large network of interrelated biological processes. Almost half (45 percent) of those tested were shown to have one or more of these CNVs.

The study highlights how the different gene variations related to autism could result in the same group of conditions. Many of these genes encode proteins involved in signalling between nerve cells, suggesting that abnormal brain signalling causes some of the symptoms of ASD.

It is estimated around one percent of the population have an autistic spectrum disorder, which can affect behaviour, social interaction and communication. While many different genes have been associated with the condition, only one in five ASD cases has a known genetic cause.

Dr Caleb Webber, who led the study, said: 'Think of a pipe that carries water. At some points along the pipe there are genes that act as taps to let more water into the pipe. At other points genes act as holes to let some of the water out. We found that in individuals with autism the mutations in all these different types of genes act in the same way to affect water flow'.

'This indicates the 'tap' genes are duplicated in some individuals with autism which increases flow into the pipe, while in other individuals with autism the 'hole' genes are deleted which decreases the amount of water leaving the pipe. Both of these events cause the same thing - too much water flowing through the pipe'.

'Knowing not just which 'pipes' in the cell are affected in autism but also in what way they are affected helps us to know in which way we have to change the flow to restore the balance', Webber explained.

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

09 March 2015 - by Sophie McLachlan 
A UK twin study estimates that between 56 and 95 percent of autism spectrum disorder cases are attributable to genetics...
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Siblings with autism do not share the same contributory genetic factor in almost 70 percent of cases, a study has revealed....
03 November 2014 - by Siobhan Chan 
Scientists have linked 107 genes to autism, and 22 of these genes have a significant impact on the likelihood of developing the disorder, two studies published in Nature have shown...
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29 April 2013 - by Dr Daniel Grimes 
A study on identical twins with distinct autistic traits suggests that epigenetic factors may be important in understanding how the neurological disorder develops...
25 March 2013 - by Matthew Thomas 
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17 September 2012 - by Dr Victoria Burchell 
A genetic test capable of predicting a person's risk of Autism Spectrum Disorders (ASDs), with an accuracy greater than 70 percent, has been developed by researchers...
26 March 2012 - by Dr Rosie Gilchrist 
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HAVE YOUR SAY
Comment (Maurinemeleck - Updated on 11/06/2013)
There is no such thing as a genetic epidemic.  Our children were not born with autism.  They developed normally until a series of vaccinations.  You can find 5 million genes and it won't make a difference to us.  The autism community knows the truth no matter how hard the government, drug companies and vaccine makers, and mainstream doctors and the media try to  hide the cause.
Maurine Meleck, SC
grandmother to 1 in 31(vaccine injured , autism and uncompensated)

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