Nav: Home

Uncovering origins of developmental brain disorders could eventually help treat seizures

October 12, 2017

Recent research discoveries in the development of brain disorders could pave the way to new therapies for treating seizures, and even some children with autism, says a leading oncologist and researcher at the University of Alberta.

David Eisenstat and his team examined a neurotransmitter in the brain called GABA which is essential to forebrain development in the embryo. They found that two specific genes, DLX1 and DLX2, regulate GABA synthesis during brain development, and that mutations to the genes resulted in abnormal brain maturation.

If these mutations happen during embryonic development, there could be several neurological problems: the child could become autistic, kids could be born with seizure disorder, or the developing neurons might not migrate to their proper site in the brain. In adults, there could be behavioural issues.

"Our findings have potential implications for autism and seizure disorders that currently aren't treatable--at least not by targeting GABA," said Eisenstat, the senior author of the study and chair of the Department of Oncology at the U of A as well as professor in the departments of Pediatrics and Medical Genetics.

According to the researcher, GABA is the most important inhibitory neurotransmitter in the brain. It is produced when DLX1 and DLX2 genes act as a molecular switch, activating an enzyme that converts a chemical called glutamate to GABA. Problems occur when the balance between glutamate--an excitatory neurotransmitter in the brain and nervous system--and GABA fall out of sync.

"GABA tells the brain to slow down. Glutamate tells the brain to speed up. A healthy brain is found in the balance," explained Eisenstat. "In some ways we have figured out how to turn on GABA. And if, going back to these diseases, we have a better idea of how to balance glutamate and GABA, we could potentially come up with new therapies for treating seizures and maybe even some children with autism."

He said that while that may sound like a lot of hand waving, 25 per cent of children with autism have a seizure disorder.

"That's not well understood. It's not all because of GABA, that would be an oversimplification, but this hypothesis is worth further testing," he said.

Eisenstat believes the findings have revealed a new pathway scientists could use to treat developmental brain disorders by getting to the root cause of problem. He hopes other researchers now take up the work and build upon it.

"I think we've unraveled a pathway to begin to take something that wasn't druggable and make it druggable," said Eisenstat. "I think in some ways, it's coming up with smarter therapy."
-end-
The study was published in the Journal of Neuroscience.

Funding for the research was provided by the Natural Sciences & Engineering Research Council of Canada (NSERC), Canadian Institutes for Health Research (CIHR), Manitoba Health Research Council, Children's Hospital Foundation of Manitoba, Women & Children's Health Research Institute (WCHRI), and through the Muriel & Ada Hole Kids with Cancer Society Chair in Pediatric Oncology.

University of Alberta Faculty of Medicine & Dentistry

Related Autism Articles:

Genes, ozone, and autism
Exposure to ozone in the environment puts individuals with high levels of genetic variation at an even higher risk for developing autism than would be expected just by adding the two risk factors together, a new analysis shows.
A blood test for autism
An algorithm based on levels of metabolites found in a blood sample can accurately predict whether a child is on the autism spectrum of disorder (ASD), based upon a recent study.
New form of autism found
Autism spectrum disorders (ASD) affect around one percent of the world's population and are characterized by a range of difficulties in social interaction and communication.
Autism Speaks MSSNG study expands understanding of autism's complex genetics
A new study from Autism Speaks' MSSNG program expands understanding of autism's complex causes and may hold clues for the future development of targeted treatments.
Paths to Autism: One or Many?
A new report in Biological Psychiatry reports that brain alterations in infants at risk for autism may be widespread and affect multiple systems, in contrast to the widely held assumption of impairment specifically in social brain networks.
Raising a child with autism
Humans are resilient, even facing the toughest of life's challenges.
Explaining autism
Recognizing a need to better understand the biology that produces Autism Spectrum Disorder (ASD) symptoms, scientists at Duke-NUS Medical School (Duke-NUS) and the National Neuroscience Institute (NNI), Singapore, have teamed up and identified a novel mechanism that potentially links abnormal brain development to the cause of ASDs.
Autism breakthrough
Using a visual test that is known to prompt different reactions in autistic and normal brains, Harvard researchers have shown that those differences were associated with a breakdown in the signaling pathway used by GABA, one of the brain's chief inhibitory neurotransmitters.
New options for treating autism
The release of oxytocin leads to an increase in the production of anandamide, which causes mice to display a preference for interacting socially.
The Autism Science Foundation launches the Autism Sisters Project
The Autism Science Foundation, a not-for-profit organization dedicated to supporting and funding autism research, today announced the launch of the Autism Sisters Project, a new initiative that will give unaffected sisters of individuals with autism the opportunity to take an active role in accelerating research into the 'Female Protective Effect.'

Related Autism Reading:

Uniquely Human: A Different Way of Seeing Autism
by Barry M. Prizant (Author)

The Reason I Jump: The Inner Voice of a Thirteen-Year-Old Boy with Autism
by Naoki Higashida (Author), KA Yoshida (Translator), David Mitchell (Translator)

Autism Breakthrough: The Groundbreaking Method That Has Helped Families All Over the World
by Raun K. Kaufman (Author)

A Parent's Guide to High-Functioning Autism Spectrum Disorder, Second Edition: How to Meet the Challenges and Help Your Child Thrive
by Sally Ozonoff (Author), Geraldine Dawson (Author), James C. McPartland (Author)

Ten Things Every Child with Autism Wishes You Knew: Updated and Expanded Edition
by Ellen Notbohm (Author), Veronica Zysk (Editor)

The Survival Guide for Kids with Autism Spectrum Disorders (And Their Parents)
by Elizabeth Verdick (Author), Elizabeth Reeve M.D. (Author)

Eating for Autism: The 10-Step Nutrition Plan to Help Treat Your Child’s Autism, Asperger’s, or ADHD
by Elizabeth Strickland (Author)

Neurotribes: The Legacy of Autism and the Future of Neurodiversity
by Steve Silberman (Author), Oliver Sacks (Foreword)

How to End the Autism Epidemic
by J.B. Handley (Author)

An Early Start for Your Child with Autism: Using Everyday Activities to Help Kids Connect, Communicate, and Learn
by Sally J. Rogers (Author), Geraldine Dawson (Author), Laurie A. Vismara (Author)

Best Science Podcasts 2018

We have hand picked the best science podcasts for 2018. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Why We Hate
From bullying to hate crimes, cruelty is all around us. So what makes us hate? And is it learned or innate? This hour, TED speakers explore the causes and consequences of hate — and how we can fight it. Guests include reformed white nationalist Christian Picciolini, CNN commentator Sally Kohn, podcast host Dylan Marron, and writer Anand Giridharadas.
Now Playing: Science for the People

#482 Body Builders
This week we explore how science and technology can help us walk when we've lost our legs, see when we've gone blind, explore unfriendly environments, and maybe even make our bodies better, stronger, and faster than ever before. We speak to Adam Piore, author of the book "The Body Builders: Inside the Science of the Engineered Human", about the increasingly amazing ways bioengineering is being used to reverse engineer, rebuild, and augment human beings. And we speak with Ken Thomas, spacesuit engineer and author of the book "The Journey to Moonwalking: The People That Enabled Footprints on the Moon" about...