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Gene clue in autism research

5 April 2004
By BioNews
Appeared in BioNews 252

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 in a gene that makes a protein involved in producing the cell's 'fuel' molecule, ATP (adenosine triphosphate), appeared to double the risk of autism. While previous studies have linked rare genetic mutations to autism in individual families, this is the first to identify a genetic susceptibility that affects a broad population, the study authors say. Their findings, published in the American Journal of Psychiatry, suggest that disruption to the brain cells' fuel supply could stop them from working normally.

Autism 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. Autism often runs in families, suggesting that it has a genetic basis, although it is thought that the combined effects of at least 5-10 different genes are involved. The gene variants identified in the latest study appear to increase the risk of developing autism by 2-5 times, although the authors stress that further work is needed to confirm the link. 'It looks like they might have something... but it's a bit too soon to say definitively', commented Susan Santangelo, of Harvard University.

The gene, called SLC25A12, makes a protein called the mitochondrial aspartate/glutamate carrier, which is involved in the production of ATP. Genetic mutations that affect the rate of ATP-production could disrupt the supply of the large amounts of energy required by the brain, which in turn could trigger the symptoms of autism, the authors speculate. Inheriting these gene variants is not in itself enough to cause the disorder, although they do appear to double a person's risk. Lead author Joseph Buxbaum says that 'it is an accumulation of genetic factors that cause the disease', adding 'our current challenge is to find more of these genes'.

Gene 'increases risk of autism'
BBC News Online |  31 March 2004
Gene linked with higher autism risk |  2 April 2004
Researchers identify first gene variant that appears to increase risk of autism in significant portion of the population
ScienceDaily |  1 April 2004
Scientists identify a first gene for autism
The Times |  1 April 2004
25 October 2009 - by Dr Rebecca Robey 
US scientists have identified a genetic trait that is strongly associated with autism. The genetic change does not involve a mutation within the DNA sequence of a gene but instead involves an alteration in the physical structure of the DNA which affects the way a gene is turned on and off. The researchers hope that the new findings will lead to novel ways to diagnose and treat autism....
26 March 2007 - by Dr Jess Buxton 
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...
26 February 2007 - by Dr Laura Bell 
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...
4 May 2006 - by Dr Jess Buxton 
Mice bred to lack a crucial brain gene show many of the characteristics of autism, say US scientists based at the University of Texas. The team created a 'knockout' mouse that is missing a gene called Pten, specifically in areas of the brain associated with learning...
29 July 2005 - by BioNews 
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...
22 July 2005 - by BioNews 
The identification of a gene involved in autism could lead to a new test for children at risk of developing the condition, French researchers say. The scientists, based at the company IntegraGen SA, have shown that variations in a gene called PRKCB1 are 'strongly associated' with autism. The finding, published...
19 July 2004 - by BioNews 
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...
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