
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 ...
04/08/2026
Dalet, a leading technology and service provider for media-rich organizations, t...
04/07/2026
April 7 2026, 19:00 (PDT) Detective Conan: Fallen Angel of the Highway Opens in...
01/06/2026
January 6 2026, 05:30 (PST) Dolby Sets the New Standard for Premium Entertainment at CES 2026
Throughout the week, Dolby brings to life the latest innovatio...
02/05/2026
Dalet, a leading technology and service provider for media-rich organizations, t...
01/05/2026
January 5 2026, 18:30 (PST) NBCUniversal's Peacock to Be First Streamer to ...
28/04/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
28/04/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
28/04/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
28/04/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
28/04/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
28/04/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
28/04/2026
Introducing Nx 3-Strip v2 - A Physics-Based Technicolor Reconstruction for DaVin...
27/04/2026
CES Power, a provider of infrastructure for live events, has announced the acquisition of three Ireland-based businesses: GH Energy Rental Ltd, Event Power, and...
27/04/2026
FuboTV Inc. has announced it is developing its Multiview feature for the Fubo streaming service on select LG TVs, including 2024, 2025, and newer 4K and 8K mode...
27/04/2026
Shade, a file management platform for creative teams, has announced a $14 million funding round led by Khosla Ventures, Construct Capital, and Bling Capital, br...
27/04/2026
The Audio Engineering Society (AES) will present the Immersive Audio Academy 12th Edition - Immersive Audio in All Flavors - on April 30, 2026, at 12:00 p.m. ...
27/04/2026
DAZN has announced DAZN48, a creator program for the FIFA World Cup 2026 that will recruit 48 creators - one representing each of the 48 qualified nations - to ...
27/04/2026
FloSports has announced exclusive streaming rights to four CrossFit competitions: Legends Del Mar: CrossFit Semi-Finals, Magic City Games, NorCal Classic, and t...
27/04/2026
Telestream has announced that Pulse, its software-defined test and measurement p...
27/04/2026
Shade has announced it is a Cloud Computing and Storage winner in the 2026 NAB Show Product of the Year Awards. Winners were selected by a panel of industry exp...
27/04/2026
Leading the NBA's video-ads platform, this Penn State grad is at the forefro...
27/04/2026
DAZN has expanded its international broadcast rights for the T100 Triathlon World Tour to include Africa. All races from the T100 calendar will be available for...
27/04/2026
NAB Show has announced the recipients of its 2026 Project of the Year and Product of the Year Awards at a ceremony at the Las Vegas Convention Center.
Each wi...
27/04/2026
DIRECTV has launched on Meta Quest headsets, becoming the first MVPD to offer live TV through the platform. The timing coincides with the stretch run of the MLB...
27/04/2026
TBL Team Boxing League has announced a broadcast agreement with MSG Networks to air all remaining Season 4 fights live across MSG's television and digital p...
27/04/2026
IP integration, interoperability, growth of intercommunications were key concerns for vendors and visitors alike
Attendees at the recently concluded 2026 NAB S...
27/04/2026
Behind The Mic provides a roundup of recent news regarding on-air talent, includ...
27/04/2026
A pro-audio emphasis, spectrum changes, and on-field audio mark the new products and enhancements to existing offerings
Microphones remain the primary point of...
27/04/2026
The Sports Video Group team was all over the NAB Show floor out in Las Vegas las...
27/04/2026
N r Spotify grundades f r 20 r sedan dominerades musikmarknaden av illegal nedladdning. Sedan dess har streaming bidragit till att teruppr tta betalningsvilja...
27/04/2026
Time on Spotify should feel meaningful and intentional, not something that slips...
27/04/2026
New modular multi-effects plug-in revealed
The latest plug-in from Brainworx delivers a modular set of effects designed to offer a convenient alternative to...
27/04/2026
Kit includes supercardioid & shotgun capsules
High-end mic manufacturer Schoeps have recently introduced another member of their Desert Island Set family. O...
27/04/2026
LA2A-inspired 500-series module arrives
Sound Skulptor have announced the upcoming launch of a new 500-series module that aims to recreate one of the most p...
27/04/2026
SSL-inspired compressor unit upgraded
Stam Audio are well known for their painstaking recreations of vintage audio gear, with their extensive product range ...
27/04/2026
Available for current Nielsen ONE Ads customers, this new capability predicts sa...
27/04/2026
Share
Copy link
Facebook
X
Linkedin
Bluesky
Email...
27/04/2026
Nippon TV's In-House Proprietary AI Solution AiDi Wins Product of the Year A...
27/04/2026
Outpost Introduces Unlimited Collaboration Model for Review and Approval Workflo...
27/04/2026
Ikegami Announces VFE-P07D Monocular OLED Viewfinder with Tiltable 3.5-inch LCD ...
27/04/2026
Custom Consoles announces the completion of a large Module-R desk and MediaWall monitor display mount for an expanded master control room at Gravity Medias West...
27/04/2026
Other World Computing Launches OWC Express 4M2 Ultra - Thunderbolt 5 Four-Slot N...
27/04/2026
Back to All News
Netflix announces El sobrino, the new film by Dami n Szifron s...
27/04/2026
Red Seat Ventures Announces Exclusive Multiyear Partnership with Kill Tony The Company is the New Monetization and Distribution Home for the Globally Popula...
27/04/2026
RT 2FM is calling on aspiring DJs across Ireland to take their shot at the spot...
27/04/2026
RT continues to champion Ireland's creative life this May, supporting a broad range of festivals, exhibitions and performances across music, theatre, liter...
26/04/2026
Back to All News
Director Yoon Jong-bin Returns with The Generals' (WT), A...
26/04/2026
Back to All News
Nine Queens, Starring Alvaro Morte and Patrick Criado, Starts ...
25/04/2026
In the heart of Mexico City, music, culture, and fashion converged last night as Spotify and Vogue Latin America welcomed guests to an intimate gathering at Soh...