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
05/01/2027
Worlds first 802.15.4ab-UWB chip verified by Calterah and Rohde & Schwarz to be ...
14/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
14/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
14/11/2026
Newest Lenses, Horizon Anamorphic Seminar & Guided Lens Character Experience Highlight Creative Possibilities
At the 2026 Toru CAMERIMAGE Film Festival, ZEISS...
14/11/2026
Sonnet Announces Black Friday Sale on Select Products
Brie Clayton November 14, 2026
0 Comments
WHAT: Sonnet Technologies is having a sale on a select...
14/11/2026
Berklee Alumni Shine at the 2026 Latin Grammy Awards This year's winners included songwriters, engineers, and performers who contributed to acclaimed reco...
13/11/2026
The UIM E1 Series wraps its third season this week with the Bombay Sapphire E1 Miami GP, Nov. 11-14, on Biscayne Bay at the Miami Seaplane Base on Watson Island...
13/11/2026
In-venue and creative video staffers at the professional and collegiate level ha...
13/11/2026
Singer-songwriter Benson Boone will headline entertainment for the Discover NHL Winter Classic between the Utah Mammoth and Colorado Avalanche at Rice-Eccles St...
13/11/2026
Blackmagic Design has announced the Blackmagic Ambisonic Microphone, a 7th order ambisonic microphone array that captures spatial audio for immersive video prod...
13/11/2026
SMPTE has announced that The Studio B&H and Riedel Communications will provide the video infrastructure and communications technology for the Solutions Hub at t...
13/11/2026
The Hollywood Professional Association (HPA) has announced the theme and program focus for the 2027 HPA Tech Retreat, which takes place Feb. 14-18, 2027, in La ...
13/11/2026
Football Manager 27 Touch is available on Apple Arcade starting today. The game ...
13/11/2026
MotoGP has announced a two-year media rights agreement with ESPN covering the Un...
13/11/2026
Apple Sports, the free iPhone app, has added the Ultimate Fighting Championship (UFC) to its lineup of supported sports, in time for Saturday's UFC 334. The...
13/11/2026
The NBA and Fanatics Studios, the joint venture between Fanatics and entertainme...
13/11/2026
ESPN held its annual EDGE Innovation Conference last night and offered up an ove...
13/11/2026
Regional sports network gives Ithaca College, SUNY Cortland students a platform to thrive
One of the biggest games in Division III college football will be pla...
13/11/2026
Studer-inspired 500-series PWM compressor unveiled
The HLabs range already includes a couple of Studer-inspired offerings in the form of the PRE169 and EQ16...
13/11/2026
Download Now!
To view the white paper, please enter the following details:
--
First Name* First Name
Company*
Country* Please select your countryA...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Blue Lucy, the workflow orchestration and integration platform for broadcasters, rights owners and localisation companies, today announced an integration with c...
13/11/2026
Krotos announces Black Friday offers on Studio Pro and Studio Max
Brie Clayton November 12, 2026
0 Comments
First-year annual plans start at US$195.99...
13/11/2026
Blackmagic Design Announces Blackmagic Ambisonic Microphone
Brie Clayton November 12, 2026
0 Comments
New 7th order ambisonic microphone with 108 MEMS...
13/11/2026
Meet the Berklee Student Setting Planetary Motion to Music With his compositional platform SoniKosmos, Javier Roqueni aims to make the universe the ultimate i...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , er...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , er...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Share
{alert(Link copied)}).catch(err => {console.error(Failed to copy: , err)}) data-platform=copy_link data-action= class=font-ui-heading py-2 text-sm tex...
13/11/2026
Amagi, the media industry cloud company, today announced a partnership with Golden Times Media Technology (stock code 920021.BJ), a Beijing-based media and tech...
13/11/2026
CGI (TSX: GIB.A) (NYSE: GIB), one of the largest independent IT and business consulting services firms in the world, together with its Malaysian partner, Cedar ...
13/11/2026
SMPTE, the home for media professionals, technologists and engineers, today announced that The Studio B&H and Riedel Communications will provide the video infra...
13/11/2026
iWedia, a global leader in connected TV software solutions, will present its software-first approach to DRAM optimization at Android TV APAC Summit 2026 in Bang...
13/11/2026
Beginning today, November 13, Apple HomeView is available for purchase at Apple Store locations, on the Apple Store online, and in the Apple Store app in select...
13/11/2026
From pediatric research to smart hospitals, AI is helping care teams spend less time on routine tasks and more time with patients.
Health systems and startups...
12/11/2026
Industry leaders examine how Dynamic Media Facility, Media eXchange Layer, and c...
12/11/2026
The junior Tar Heel is embracing the technical and creative challenges of live production while emerging as a leader and mentor in the control room...
12/11/2026
Gracenote, Nielsen's content intelligence business, has released its fifth a...
12/11/2026
RTL Deutschland will bring the NHL to free-to-air TV in Germany starting Nov. 30...
12/11/2026
Clear-Com supported On Air 2026, a 24-hour student-led broadcast connecting 45 u...
12/11/2026
uniqFEED has opened a Remote Operations Center (ROC) in Madrid, Spain. It is already operational, delivering virtual advertising for LaLiga matches. The ROC is ...
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.
