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PETBioNewsNewsMissing genes linked to autism

BioNews

Missing genes linked to autism

Published 9 June 2009 posted in News and appears in BioNews 400

Author

Dr Jess Buxton

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.

Many cases of autism could be linked to spontaneous genetic changes that result in large chunks of missing DNA, according to a new US study. The research, published early online in Science, shows that so-called 'copy number variants' could be an important factor in the appearance...

Many cases of autism could be linked to spontaneous genetic changes that result in large chunks of missing DNA, according to a new US study. The research, published early online in Science, shows that so-called 'copy number variants' could be an important factor in the appearance of autism, especially in families with just one affected child. Lead author Jonathon Sebat, of Cold Spring Harbour Laboratory, said the data showed there could be many 'autism genes' in the genome.


Autism - along with several related conditions together known as autistic spectrum disorders - is a lifelong developmental disability that typically appears during the first three years of life. The disorder affects social and language skills, and the way in which a child relates to people, objects and events. Although autism often runs in families, many children are born to parents with no history of the condition.


The team studied 118 families with just one affected child, 47 with multiple children with an autism spectrum disorder, and 99 unaffected families. They looked at DNA samples from the participants, to try and detect regions that were either deleted or duplicated in affected individuals. The researchers identified such a genetic change in over 10 per cent of the children, most of which were not present in either parent. Their locations varied between individuals, involving many different genes.


Most of the changes were deletions, leading to missing copies of genes - in one case, 27 genes were encompassed by a single deletion. Since the spontaneous changes were typically present in families with only one affected child, testing for these variations may allow doctors to inform parents about their risk for having a second child with autism, according to Sebat. The genetics of autism may be different in families with several affected children, he says.


'The majority of genetic studies to date have focussed on the minority of families with multiple affected kids', Sebat told the Scientist magazine, adding 'the sporadic cases might be a rich source of genetic information'. The team now plans to screen at least another 2000 further families, using higher-resolution technology, to try and detect more genetic changes associated with autism.

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Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
Comment
16 April 2010 • 5 minutes read

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Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
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Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
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9 June 2009 • 1 minute read

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Recent research published online in the journal Nature Genetics has revealed new genetic variations which may contribute to autism. Autism, along with related conditions such as Asperger syndrome, is characterised by a range of severity and symptoms. The conditions are therefore collectively known as autistic spectrum...

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
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9 June 2009 • 1 minute read

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By Dr Laura Bell New research recently published in the journal Science provides hope for the treatment of Rett syndrome, a rare but severe childhood neurological disorder. Nearly 10,000 children in the UK are affected by Rett syndrome which, in its early stages, has similar symptoms to autism. The condition...

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
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Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
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Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
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9 June 2009 • 2 minutes read

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In two separate studies, scientists working at Vanderbilt University in Tennessee, US have shown that a faulty gene involved in controlling levels of the brain chemical serotonin is linked to an increased risk of autism. The first study, published in the American Journal of Human Genetics, shows that many different...

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
News
9 June 2009 • 1 minute read

Worldwide search for autism genes begins

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An international team of 170 scientists has embarked on a search for genes that influence a child's risk of developing autism. The project will study 6000 DNA samples from around 1,200 families affected by the developmental disorder, in order to track down the estimated 15-20 genes thought to be...

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
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9 June 2009 • 2 minutes read

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Variations in a gene involved in energy production could be linked to autism, US researchers say. A team based at the Mount Sinai School of Medicine in New York studied 720 people from 411 families, who all have either autism, or the related condition autistic disorder. They found that variations...

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