
Autism gene study finds widespread impact to brain's growth signaling network Mutations to Dyrk1a gene lead to brain undergrowth; an existing drug rescues the condition in newborn mice.
April 08, 2021
JUPITER, FL Damage to the autism-associated gene Dyrk1a, sets off a cascade of problems in developing mouse brains, resulting in abnormal growth-factor signaling, undergrowth of neurons, smaller-than-average brain size, and, eventually, autism-like behaviors, a new study from Scripps Research, Florida, finds.
The study from neuroscientist Damon Page, PhD, describes a new mechanism underlying the brain undergrowth seen in individuals with Dyrk1a mutations. Page's team used those insights to target the affected pathway with an existing medicine, a growth hormone. It restored normal brain growth in the Dyrk1a mutant mice, Page says.
As of now, there's simply no targeted treatments available for individuals with autism spectrum disorders caused by DYRK1A mutations, Page says. This represents a first step in evaluating a potential treatment that could be used in the clinic.
Their study appears Thursday in the journal Biological Psychiatry.
To track the effects of missing Dyrk1a genes, Jenna Levy, the paper's first author and a graduate student in Page's lab, engineered mice to have one or two broken copies of Dyrk1a in their developing brain tissue. The brains of both sets of mice developed abnormally, she found, displaying decreased brain size and number of neurons, as well as reduced number of other brain cells.
Downstream effects
The scientists also conducted unbiased proteomic studies, to see if the mutant mice had abnormally high or low levels of other unknown proteins that might impact brain development. Using a technique called high-resolution tandem mass spectrometry coupled to liquid chromatography, they found that the Dyrk1a mutant mice had reduced levels of 56 cellular proteins, and increased levels of 33. Many of those were known autism risk genes, some implicated in sending growth signals, Levy says.
The specific signaling cascades we found altered in Dyrk1a mutants are implicated in multiple causal mechanisms of autism, Levy says.
A computational biology technique called Ingenuity Pathway Analysis helped them find altered proteins. There were changes to those involved in nerve signaling, creation of synapses, and growth of axons, the long, insulated extensions that give neurons their distinct shape. Also, multiple forms of the protein Tau were depleted in the Dyrk1a mice.
These data implicate signaling cascades that were previously not known to be altered by Dyrk1a mutations, Page says.
Many autism genes
At least 200 different high-confidence risk genes for autism spectrum disorders have been identified, Page says, but little has been known about their roles and relationships, complicating diagnosis and treatment development efforts.
Page estimates that fewer than 1 percent of people diagnosed with autism spectrum disorder carry Dyrk1a mutations. Half of those show autistic behavioral traits, and about 70 percent have short stature. But many more people with autism diagnoses display microcephaly, or smaller-than-average head circumference, around 1 in 20, he says.
Importantly for treatment considerations, this study suggests there may be a point of convergence for multiple autism causes, Page says. Abnormal activity of this pathway appears to be shared across various genetic causes of autism, pointing to the possibility of common molecular target for therapeutics.
Previously, Page's lab has found autism-linked mutations to a gene called Pten can cause an opposite effect, brain overgrowth, or macrocephaly.
What we didn't know before is that the signaling disruptions that cause microcephaly, brain undergrowth, appear to be the flip side of the coin of the signaling disruptions that cause macrocephaly, brain overgrowth, Page says.
Because of that, they hypothesized that restoring growth signaling at a high level, using a known growth hormone, might rescue the brain undergrowth.
We thought that treating with insulin-like growth factor 1, IGF-1, should increase the activity of the downstream signaling cascade, which should result in increased growth, Levy says. After treating Dyrk1a mice from birth to day 7, she found that was the case. The observed microcephaly improved, and under the microscope, the brain tissue showed normalized neuron growth.
Toward targeted treatments
Based on those results, more investigation is warranted on the potential for growth hormone treatment to benefit a minority of children with autism, those with Dyrk1a mutations, or related downstream mutations and manifestations, including microcephaly, Page says.
Many questions remain. Whether IGF-1 treatment in the newborn Dyrk1a mice might also improve autism-like behaviors in the mice is still under investigation, Levy adds. Also, it's still unclear whether there is a critical treatment window during mouse brain development, and if so, how large that window may be.
In humans, neural progenitor cells begin forming in the third week of pregnancy. By the seventh week, actual neuron production starts. It's a short window neuron production in the billions is mostly finished by around the 20th week of gestation. As neurons are made, each migrates to its final destination in the forming brain. Once there, it starts making connections with other neurons, elongating and branching out, literally wiring the developing brain. Rapid brain development continues with experience and growth after birth.
Autism is a constellation of disorders with multiple causes, meaning that targeted, individualized treatments will be needed to assist people who seek them, Page says. Prevalence of autism diagnoses has been rising steeply since the 1990s. Research from
Most recent headlines
09/11/2025
Dalet today announced a transformative leap forward for media operations: Agentic Artificial Intelligence (AI) that unifies the Dalet ecosystem under one natura...
06/10/2025
France T l visions, France's leading broadcaster, has received the 2025 EBU ...
13/09/2025
ATLANTA Cox Media Group has announced that the company's vice president of news, Misty Turnbull has been inducted into the National Academy of Television Ar...
13/09/2025
AMSTERDAM Shotoku Broadcast Systems, a major developer of robotic systems, has announced plans to take studio robotics to the next level at IBC2025 by debuting ...
13/09/2025
At IBC2025 in Amsterdam, Riedel Communications unveiled Bolero Mini, the company's lightest and flattest wireless intercom beltpack to date. Designed to del...
13/09/2025
Shotoku Broadcast Systems, the international developer of dependable, userfriendly robotic systems, is taking studio robotics to the next level at IBC 2025 with...
13/09/2025
Bitmovin, a leading provider of video streaming solutions, today released the 9th annual Video Developer Report 2025/26, offering an in-depth look at the evolvi...
13/09/2025
Bitmovin, the leading provider of video streaming solutions, today announced a strategic partnership with StreamShark, the trusted video platform for enterprise...
13/09/2025
Ikegami has chosen IBC 2025 in Amsterdam as the launch venue for a major addition to its range of viewfinders. The new VFE-P711AD is a 7-inch high resolution OL...
13/09/2025
Founder-led Merger to Fast Track R&D, Asset Library Upgrades, Tools and More; No Disruption to Pricing or Support for Users
Today, KitBash3D, a pioneer in 3D a...
13/09/2025
With NDI certification, Atomos integration, Grass Valley collaboration, and a new Monitor app, at this year's IBC, Mavis is showcasing a series of powerful...
13/09/2025
Creamsource, maker of artisan LED lighting for film and television, has unveiled the Vortex24 Soft (V24S), a 1950W native soft light and the largest soft source...
13/09/2025
When international sports streaming service DAZN secured the global rights to the 2025 FIFA Club World Cup football tournament, it set out to deliver an unmatch...
13/09/2025
Riedel Communications today announced the acquisition of hi human interface from Broadcast Solutions, bringing a powerful, vendor-agnostic control system to it...
13/09/2025
Building on its long-term relationship with audio metering specialist RTW, Calrec has integrated the company's brand new TMxCore metering platform across it...
13/09/2025
Calrec is expanding its family of future-ready self-contained Argo M control surfaces at IBC2025, with the addition of a brand new powerful 48-fader console. Co...
13/09/2025
Researchers find brain region that fuels compulsive drinking Study by Scripps Research scientists shows how the brain learns to seek alcohol for relief, not jus...
12/09/2025
College Football Kickoff 2025: Fox Sports Ups Look as Canon, Sony Power Shallow ...
12/09/2025
ABC/ESPN Excited For WNBA Postseason Coverage In Revamped FormatThe Finals moves to a best-of-seven series in 2025By Mark J Burns, SVG Contributor
Friday, Sep...
12/09/2025
(L-R) Jade Croot, Rosy McEwen, and Bryn Chainey attend the 2025 Sundance Film Festival premiere of Rabbit Trap at Eccles Theatre on January 24, 2025, in Park ...
12/09/2025
For fans, we know how important it is to stay plugged into music culture and dis...
12/09/2025
Link ping, Sweden and Shipley, United Kingdom, September 12, 2025 - Agama, the expert in video observability and analytics for service quality and customer expe...
12/09/2025
IBC2025 began on Sept. 12, with exhibits and conferences running through Sept. 15 at the RAI Amsterdam Convention Center. Explore the full TV Tech coverage of t...
12/09/2025
The Best Fictional Bands (and the Artists Who Make Them Great) With Spinal Tap II: The End Continues hitting theaters and songs from KPop Demon Hunters ruling...
12/09/2025
Industry veteran Tom Baldassare has joined Advanced Systems Group, LLC (ASG), a technology and services provider for media creatives and content owners, as a Se...
12/09/2025
Maxon, maker of powerful, approachable software solutions for creators working in 2D and 3D design, motion graphics, visual effects, and more, today announced a...
12/09/2025
PlayBox Neo, a leading provider of media playout solutions, has partnered with AI-Media, pioneering developers of AI-powered captioning technology, to integrate...
12/09/2025
Dalet today announced a transformative leap forward for media operations: Agentic Artificial Intelligence (AI) that unifies the Dalet ecosystem under one natura...
12/09/2025
New alliance strengthens the IT channel in Germany and Switzerland in protecting business-critical SaaS data.
Keepit, the world s only independent, cloud-nativ...
12/09/2025
Fincons Group, an international IT business consultancy and systems integrator company with more than 40 years of experience in the market, is proud to announce...
12/09/2025
Following its acquisition of Telemetrics, EVS continues its push into robotics with an announcement at IBC2025 that it is acquiring XD motion....
12/09/2025
TORONTO The North American Broadcasters Association (NABA) has announced the appointment of Eduardo Ruiz Sanchez, deputy director, broadcast operations at Telev...
12/09/2025
Ed Miller, a longtime broadcast engineer in Ohio and a former national president of the Society of Broadcast Engineers, has died....
12/09/2025
AMSTERDAM At this year's IBC2025, the Advanced HDR by Technicolor initiative will be pushing broadcasters to adopt a more dynamic, frame-by-frame conversion...
12/09/2025
Feature-length retrospective from Studio Crook to air in 2026
Sir David Jason returns to the nation's favourite comedy channel, U&GOLD, for Open All Hours:...
12/09/2025
September 12th, 2025
Tribeca X and The Female Quotient to Host Powerhouse Em...
12/09/2025
Friday 12 September 2025
The Boomtown Rats, Nyah Grace, Soweto Kinch, Royal Ballet and Madness also announced to perform at the ceremony on Tuesday
Sky today ...
12/09/2025
Wuppertal September 12, 2025
Riedel Unveils Ultra-Light Bolero Mini Wireless Intercom BeltpackAt IBC2025 in Amsterdam, Riedel Communications unveiled Bolero M...
12/09/2025
Wuppertal September 12, 2025
Riedel Communications Acquires hi human interfaceRiedel Communications today announced the acquisition of hi human interface fro...
12/09/2025
Back to All News
New International Crime Series Road (WT)' Explores Twiste...
12/09/2025
Back to All News
First Look: Thai Crime Drama Everybody Loves Me When I'm ...
12/09/2025
Back to All News
Netflix Marks 10 Years in Japan, Announces Three New Series Th...
12/09/2025
CORE+ virtually removes distortion, setting a new standard for church sound and giving worship teams the clarity and confidence they need.
Read the full artic...
12/09/2025
The Late Late Show is back with a bang after the summer break, and Patrick Kielt...
12/09/2025
The World Athletics Championships, Ireland v France in the Women's Rugby World Cup quarter-final, the Irish Champions Festival, and two Sports Direct Men...
12/09/2025
The Records Show starts Sunday at 6.30pm on RT One and RT Player.
Katie Hanno...
11/09/2025
Report: Busy Live Sports Streaming Execs Have Low-hanging Fruit' in Front o...
11/09/2025
Inside Game Creek Video's Big Week as Ovation, Flagship Make NFL DebutsBy Ken Kerschbaumer, Editorial Director
Thursday, September 11, 2025 - 7:00 am
Pr...
11/09/2025
NFL Kickoff 2025: Prime Sports Starts New Season at Lambeau Field; Sets Sights o...
11/09/2025
College Football Kickoff 2025: NBC Sports Pushes HDR Image Quality, Aerial Drone...