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 disorders. It's estimated that more than 580,000 people in the UK have autistic spectrum disorders. 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.
The new study is the largest of its kind, and involved one hundred and twenty scientists from Europe and North America scanning 1,200 families with a history of the condition. The project was launched in 2002 when scientists at 50 institutions formed the Autism Genome Project, in order to share data and expertise and to speed up the process of identifying genes which increase people's genetic risk of inheriting the disorder. Researchers used a technology called high density microarrays - also called 'gene chips' - which allowed them to look for genetic variations which occur more often in affected people.
The research was funded by the non-profit organisation Autism Speaks and the US National Institutes of Health. The findings suggest certain variations of the neurexin 1 gene, involved in the brain's glutamate chemical messenger system, and an as yet unrefined region of chromosome 11, may heighten risk for autism spectrum disorders.
'This project represents a new beginning in autism research, and provides an invaluable resource to researchers worldwide', said Bernie Devlin, associate professor of psychiatry and human genetics at the University of Pittsburgh and an author of the study. 'We hope that access to the tools and information developed through this project will help researchers begin to unravel the causes of autism'. The identification of risk genes is expected to provide new insight into the causes of autism, offering a route to breakthroughs in diagnosis and new treatments.
Sources and References
Related Articles
Epigenetic link to autism
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....
Genetics and autism: untangling the debate
Autism spectrum disorder (ASD) is rarely far from the news. ASD is a complex, and as yet poorly understood, pervasive developmental disorder. People with ASD display a triad of impairments in social communication, social interaction, and social imagination (1). The impact of these impairments on children and adults with ASD, and on their families, can vary enormously. However, a common reaction to ASD is fear: fear that my child may develop ASD; fear that my child with ASD will suffer;
Missing genes linked to autism
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...
Scientists reverse Rett syndrome symptoms in mice
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...
Different genes may trigger autism in boys and girls
Researchers at the University of Washington, US, have found that different genes may be responsible for causing autism in boys than girls. Reporting in the Journal of Molecular Genetics last week, they have found evidence for two genetic subtypes of autism; both male versus female and also...
Multiple gene mutations linked to autism
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...
Genetic test for autism?
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...
Worldwide search for autism genes begins
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...
Gene clue in autism research
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...
Leave a Reply
You must be logged in to post a comment.