Nav: Home

New form of autism found

December 01, 2016

Autism spectrum disorders affect around one percent of the world's population and are characterized by a range of difficulties in social interaction and communication. In a new study published in Cell today, a team of researchers led by Gaia Novarino, Professor at IST Austria, has identified a new genetic cause of ASD. Gaia Novarino explains why this finding is significant: "There are many different genetic mutations causing autism, and they are all very rare. This heterogeneity makes it difficult to develop effective treatments. Our analysis not only revealed a new autism-linked gene, but also identified the mechanism by which its mutation causes autism. Excitingly, mutations in other genes share the same autism-causing mechanism, indicating that we may have underscored a subgroup of ASDs."

"The identification of novel genes, especially in heterogeneous diseases such as autism, is difficult. However, as result of a collaborative effort, we were able to identify mutations in a gene called SLC7A5 in several patients born to consanguineous marriages and diagnosed with syndromic autism", points out Dr. Caglayan, Chairman of the Department of Medical Genetics in the School of Medicine at Istanbul Bilim University in Turkey and co-author of the study.

SLC7A5 transports a certain type of amino acids, the so-called branched-chain amino acids (BCAA), into the brain. To understand how mutations of SLC7A5 lead to autism, the researchers studied mice in which SLC7A5 is removed at the barrier between the blood and the brain. This reduces the levels of BCAAs in their brain, and interferes with protein synthesis in neurons. Consequently, the mice show reduced social interaction and other changes in their behavior, which are also observed in other autism mouse models. In a previous study, Gaia Novarino and colleagues identified a mutation in a gene that is involved in the breakdown of these same amino acids in several patients with ASD, intellectual disability and epilepsy. "Of course, not all genes causing autism affect amino acid levels, and these forms of autism are unarguably very rare, but it is possible that even more autism-causing genes fall in this group." explains Gaia Novarino.

Notably, the researchers were able to treat some of the neurological abnormalities in the adult mice missing SLC7A5 at the blood-brain barrier. After delivering BCAAs straight into the mice's brains for three weeks, the authors observed an improvement in behavioral symptoms. Dora Tarlungeanu, PhD student in Gaia Novarino's group and first author of the study, is excited about the outlook this result gives: "Our research found a potential treatment for certain symptoms presented in this form of ASD in mice but translation into a treatment for ASD patients will require many years of additional research." The researchers' results contrast with the idea that ASDs are always irreversible conditions. The way they treated symptoms in the mice can, of course, not directly be used in humans. But they show that some of the neurological complications presented by mice missing Slc7a5 can be rescued, and so it is possible that - eventually - patients may be treated as well.
-end-


Institute of Science and Technology Austria

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)

Winner of the Autism Society of America’s Dr. Temple Grandin Award for the Outstanding Literary Work in Autism

A groundbreaking book on autism, by one of the world’s leading experts, who portrays autism as a unique way of being human—this is “required reading....Breathtakingly simple and profoundly positive” (Chicago Tribune).

Autism therapy typically focuses on ridding individuals of “autistic” symptoms such as difficulties interacting socially, problems in communicating, sensory challenges, and repetitive behavior patterns. Now Dr. Barry M. Prizant... View Details


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)

“One of the most remarkable books I’ve ever read. It’s truly moving, eye-opening, incredibly vivid.”—Jon Stewart, The Daily Show

NAMED ONE OF THE BEST BOOKS OF THE YEAR BY
NPR • The Wall Street Journal • Bloomberg Business • Bookish

FINALIST FOR THE BOOKS FOR A BETTER LIFE FIRST BOOK AWARD • NEW YORK TIMES BESTSELLER

You’ve never read a book like The Reason I Jump. Written by Naoki Higashida, a very smart, very self-aware, and very charming thirteen-year-old boy with autism, it is a... View Details


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

As a boy, Raun Kaufman was diagnosed by multiple experts as severely autistic, with an IQ below 30, and destined to spend his life in an institution. Years later, Raun graduated with a degree in Biomedical Ethics from Brown University and has become a passionate and articulate autism expert and educator with no trace of his former condition.
So what happened?

Thanks to The Son-Rise Program, a revolutionary method created by his parents, Raun experienced a full recovery from autism. (His story was recounted in the best-selling book Son-Rise: The Miracle Continues and in the... View Details


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

This positive, straightforward book offers kids with autism spectrum disorders (ASDs) their own comprehensive resource for both understanding their condition and finding tools to cope with the challenges they face every day. Some children with ASDs are gifted; others struggle academically. Some are more introverted, while others try to be social. Some get "stuck" on things, have limited interests, or experience repeated motor movements like flapping or pacing ("stims"). The Survival Guide for Kids with Autism Spectrum Disorders covers all of these areas, with an emphasis on... View Details


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)

Many tens of thousands of parents have found the facts they need about high-functioning autism spectrum disorder (ASD), including Asperger syndrome, in this indispensable guide. Leading experts show how you can work with your child's unique impairments--and harness his or her capabilities. Vivid stories and real-world examples illustrate ways to help kids with ASD relate more comfortably to peers, learn the rules of appropriate behavior, and succeed in school. You'll learn how ASD is diagnosed and what treatments and educational supports really work. Updated with the latest research and... View Details


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

A bestseller gets even better!  Every parent, teacher, social worker, therapist, and physician should have this succinct and informative book in their back pocket. Framed with both humor and compassion, the book describes ten characteristics that help illuminate—not define—children with autism.

Ellen’s personal experiences as a parent of children with autism and ADHD, a celebrated autism author, and a contributor to numerous publications, classrooms, conferences, and websites around the world coalesce to create a guide for all who come in contact with a... View Details


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

What your child eats has a major impact on his brain and body function. Eating for Autism is the first book to explain how an autism, Asperger's, PDD-NOS, or ADHD condition can effectively be treated through diet.

Eating for Autism presents a realistic 10-step plan to change your child's diet, starting with essential foods and supplements and moving to more advanced therapies like the Gluten-Free Casein-Free diet. Parents who have followed Strickland's revolutionary plan have reported great improvements in their child's condition, from his mood, sleeping patterns, learning... View Details


Asperger's Children: The Origins of Autism in Nazi Vienna
by Edith Sheffer (Author)

A groundbreaking exploration of the chilling history behind an increasingly common diagnosis.

Hans Asperger, the pioneer of autism and Asperger syndrome in Nazi Vienna, has been celebrated for his compassionate defense of children with disabilities. But in this groundbreaking book, prize-winning historian Edith Sheffer exposes that Asperger was not only involved in the racial policies of Hitler’s Third Reich, he was complicit in the murder of children.

As the Nazi regime slaughtered millions across Europe during World War Two, it sorted people according to... View Details


Autism & Me
by Allison Butler (Author), Milan Bonilla-Cruz (Author), Milan Bonilla-Cruz (Illustrator)

This children’s book comes from the perspective of a child with autism. It shows how he thinks and overcomes various challenges throughout a typical school day. View Details


I See Things Differently: A First Look at Autism (A First Look At...Series)
by Pat Thomas (Author)

Psychotherapist and counselor Pat Thomas puts her gentle, yet straightforward approach to work in this new addition to Barron's highly acclaimed A First Look At...Series. This book will help children understand what autism is and how it affects someone who has it. A wonderful catalyst for discussion that will help children to better understand and support autistic classmates or siblings. The story line is simple and easily accessible to younger children, who will learn that exploring the personal feelings around social issues is a first step in dealing with them. Full-color... View Details

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

Attention Please
In an age of constant information and infinite distractions, how can we pay more attention to our ... attention? This hour, TED speakers explore the battle for our awareness during the digital age. Guests include sociologist Zeynep Tufekci, podcast host Manoush Zomorodi, neuroscientist Amishi Jha, designer Tristan Harris, and computer scientist Jaron Lanier.
Now Playing: Science for the People

#475 Mother Nature is Trying to Kill You (Rebroadcast)
This week, we're learning how deadly and delightful our planet and its ecosystem can be. We're joined by biologist Dan Riskin, co-host of Discovery Canada's Daily Planet, to talk about his book "Mother Nature Is Trying to Kill You: a Lively Tour Through the Dark Side of the Natural World." And we'll talk to astronomer and author Phil Plait about Science Getaways, his company that offers educational vacation experiences for science lovers.