Scientists link genes to brain anatomy in autism

February 27, 2018, University of Cambridge
Credit: CC0 Public Domain

A team of scientists at the University of Cambridge has discovered that specific genes are linked to individual differences in brain anatomy in autistic children.

Previous studies have reported differences in brain structure of . However, until now, scientists have not known which are linked to these differences.

The Cambridge team analysed (MRI) brain scans from more than 150 and compared them with MRI scans from similarly aged children but who did not have . They looked at variation in the thickness of the cortex, the outermost layer of the brain, and linked this to gene activity in the brain.

They discovered a set of genes linked to differences in the thickness of the cortex between autistic kids and non-autistic children. Many of these genes are involved in how brain cells (or neurons) communicate with each other. Interestingly, many of the genes identified in this study have been shown to have lower gene activity at the molecular level in autistic post mortem brain tissue samples.

The study was led by two postdoctoral scientists, Dr Rafael Romero-Garcia and Dr Richard Bethlehem, and Varun Warrier, a PhD student. The study is published in the journal Molecular Psychiatry and provides the first evidence linking differences in the autistic brain to genes with atypical gene activity in autistic brains.

Dr Richard Bethlehem said: "This takes us one step closer to understanding why the brains of people with and without autism may differ from one another. We have long known that autism itself is genetic, but by combining these different data sets (brain imaging and genetics) we can now identify more precisely which genes are linked to how the autistic brain may differ. In essence, we are beginning to link molecular and macroscopic levels of analysis to better understand the diversity and complexity of autism."

Varun Warrier added: "We now need to confirm these results using new genetic and brain scan data so as to understand how exactly and thickness of the cortex are linked in autism."

"The identification of genes linked to changes in autism is just the first step," said Dr Rafael Romero-Garcia. "These promising findings reveal how important multidisciplinary approaches are if we want to better understand the molecular mechanisms underlying autism. The complexity of this condition requires a joint effort from a wide scientific community."

Explore further: Autism therapy: Brain stimulation restores social behavior in mice

More information: Rafael Romero-Garcia et al, Synaptic and transcriptionally downregulated genes are associated with cortical thickness differences in autism, Molecular Psychiatry (2018). DOI: 10.1038/s41380-018-0023-7

Related Stories

Autism therapy: Brain stimulation restores social behavior in mice

December 13, 2017
Scientists are examining the feasibility of treating autistic children with neuromodulation after a new study showed social impairments can be corrected by brain stimulation.

Autism: The value of an integrated approach to diagnosis

June 19, 2015
Researchers at Inserm (Inserm Unit 930 "Imaging and Brain") attached to François-Rabelais University and Tours Regional University Hospital have combined three clinical, neurophysiological and genetic approaches in order ...

Abnormalities shown to first appear in brain networks involved in sensory processing

August 29, 2017
The origins of autism remain mysterious. What areas of the brain are involved, and when do the first signs appear? New findings published in Biological Psychiatry brings us closer to understanding the pathology of autism, ...

Autism blurs distinctions between brain regions

June 3, 2011
Autism blurs the molecular differences that normally distinguish different brain regions, a new study suggests. Among more than 500 genes that are normally expressed at significantly different levels in the front versus the ...

Autism changes molecular structure of the brain, study finds

May 25, 2011
For decades, autism researchers have faced a baffling riddle: how to unravel a disorder that leaves no known physical trace as it develops in the brain.

Team first to map autism-risk genes by function

November 21, 2013
Pity the poor autism researcher. Recent studies have linked hundreds of gene mutations scattered throughout the brain to increased autism risk. Where do you start?

Recommended for you

In kids with autism, short questionnaire may detect GI disorders

October 22, 2018
Anger, aggression, and other troubling behavior problems in kids with autism are often treated as psychological issues, but in many cases the problems can be traced to gastrointestinal distress.

Earlier treatment could help reverse autistic-like behavior in tuberous sclerosis

October 9, 2018
New research on autism has found, in a mouse model, that drug treatment at a young age can reverse social impairments. But the same intervention was not effective at an older age.

Scientists pinpoint pathway that impacts features of autism

October 8, 2018
A team of scientists at Florida Atlantic University has uncovered a brain-signaling pathway that can be pharmacologically manipulated in genetically engineered mice to reverse an autism-related pathway. Using an investigational ...

Scientists reverse a sensory impairment in mice with autism

September 25, 2018
Using a genetic technique that allows certain neurons in the brain to be switched on or off, UCLA scientists reversed a sensory impairment in mice with symptoms of autism, enabling them to learn a sensory task as quickly ...

Latest research hints at predicting autism risk for pregnant mothers

September 21, 2018
Researchers at Rensselaer Polytechnic Institute—led by Juergen Hahn, professor and head of biomedical engineering—are continuing to make remarkable progress with their research focused on autism spectrum disorder (ASD). ...

Scientists reveal drumming helps schoolchildren diagnosed with autism

September 14, 2018
Drumming for 60 minutes a week can benefit children diagnosed with autism and supports learning at school, according to a new scientific study.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.