Sony Pixel Power calrec Sony

April 08, 2021

08/04/2021

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
LINK: https://www.scripps.edu/news-and-events/press-room/2021/20210408-page-...
See more stories from scripps

Most recent headlines

05/01/2027

Worlds first 802.15.4ab-UWB chip verified by Calterah and Rohde & Schwarz to be demoed at CES 2026

Worlds first 802.15.4ab-UWB chip verified by Calterah and Rohde & Schwarz to be ...

04/08/2026

Dalet Announces Commercial Availability of Dalia, Bringing Media-Aware Agentic AI to Enterprise Productions

Dalet, a leading technology and service provider for media-rich organizations, t...

04/07/2026

Detective Conan: Fallen Angel of the Highway Opens in Dolby Cinemas Across Japan, Presented in Dolby Atmos and Dolby ...

April 7 2026, 19:00 (PDT) Detective Conan: Fallen Angel of the Highway Opens in...

01/06/2026

Dolby Sets the New Standard for Premium Entertainment at CES 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...

05/05/2026

L3Harris Provides Key Technologies for Newly Commissioned Navy Submarines

L3Harris provides communications, electronic warfare, sensors and mission systems that enable Virginia-class submarine crews to operate with confidence in conte...

05/05/2026

AgileTV consolidates its strength in 2025: EBITDA and cash conversion increase thanks to revenue growth and operational efficiency

The company grew by 7.6% in net revenue and 16.3% in EBITDA, achieving a 33% inc...

05/05/2026

Gray Media Closes Purchase of 10 Allen Media Group Stations

Share Copy link Facebook X Linkedin Bluesky Email...

05/05/2026

Dang Ly Joins Operative as Chief Product Officer

Share Copy link Facebook X Linkedin Bluesky Email...

05/05/2026

CIMM, TVB Release Local TV Currency Measurement Guidelines

Share Copy link Facebook X Linkedin Bluesky Email...

05/05/2026

ARRI Introduces Omnibar LED Linear Fixture

Share Copy link Facebook X Linkedin Bluesky Email...

05/05/2026

France Televisions Continues ST 2110 Migration With Imagi...

Project Marks First Major Broadcast Deployment of Latest Addition to SNP Lineup Imagine Communications today announced that France T l visions is the first br...

05/05/2026

Shotoku Broadcast Systems Wins 2026 NAB Show Product of t...

Shotoku Broadcast Systems Wins 2026 NAB Show Product of the Year Award Shotoku Broadcast Systems announced today that its Swoop range of robotic cranes has be...

05/05/2026

DigitalGlues creativespace Intelligence Wins Futures Best...

DigitalGlue's creative.space Intelligence Wins Future's Best of Show Award, Presented by TV Tech creative.space Intelligence (CSI), part of the creativ...

05/05/2026

Zixi Showcases Next-Generation Live Video Workflows and M...

Zixi, a leader in live video delivery and workflow orchestration, will showcase next-generation broadcast workflows at the Media Production and Technology Show ...

05/05/2026

Stingr marks its launch with a new approach to second-screen interactivity

Stingr marks its launch with a new approach to second-screen interactivity Brie Clayton May 5, 2026 0 Comments Huge leap forward in revenues and engag...

05/05/2026

Shotoku Broadcast Systems Wins 2026 NAB Show Product of the Year Award

Shotoku Broadcast Systems Wins 2026 NAB Show Product of the Year Award Brie Clayton May 5, 2026 0 Comments Shotoku Broadcast Systems announced today tha...

05/05/2026

DHD to Promote Latest Advances in Audio Production at MPT...

Following a successful NAB Show in Las Vegas, DHD will promote examples from its wide range of broadcast-quality audio production equipment at the May 13th-14th...

05/05/2026

LucidLink Redefines Cloud Media Workflows at MPTS 2026

LucidLink today announced its programme for MPTS 2026, where it will exhibit at Stand M59 at Olympia London, 13 to 14 May. The company will showcase its latest ...

05/05/2026

Limecraft Announces Version 2026-3 of its Cloud-Based Tel...

Limecraft today announces the release of Limecraft 2026.3, the third platform update in its 2026 release cycle. Limecraft is an AI-powered production platform t...

05/05/2026

Stingr marks its launch with a new approach to second-scr...

Huge leap forward in revenues and engagement...

05/05/2026

Broadcast Solutions strengthens CTO Office for technical...

Broadcast Solutions, a leading system integrator and provider of innovative solutions for the broadcast media industry, has taken another significant step in st...

05/05/2026

Operative Appoints Dang Ly as Chief Product Officer to Ac...

Operative today announced the appointment of Dang Ly as Chief Product Officer, signaling the company's accelerating commitment to delivering the next genera...

05/05/2026

World Skills Cafe Returns to IBC2026

The Media Talent Manifesto (MTM) today announces the return of the World Skills Caf at IBC2026, positioning the event as a critical industry forum to confront ...

05/05/2026

ARRI unveils Omnibar: compact, modular, battery-powered IP65 LED bars with precise pixel control

ARRI unveils Omnibar: compact, modular, battery-powered IP65 LED bars with preci...

05/05/2026

NBC Sports' NBA Playoff Viewership Up 58%

Share Copy link Facebook X Linkedin Bluesky Email...

05/05/2026

U.S. Court Upholds Some Patents in LG ATSC 3.0 Infringement Case

Share Copy link Facebook X Linkedin Bluesky Email...

05/05/2026

Gray Media and Allen Media Group Close Station Transactions

Share Copy link Facebook X Linkedin Bluesky Email...

05/05/2026

Digital Domain Welcomes Award-Nominated VFX Supervisor Jelmer Boskma

Digital Domain Welcomes Award-Nominated VFX Supervisor Jelmer Boskma Brie Clayton May 4, 2026 0 Comments Digital Domain, a global leader in visual eff...

05/05/2026

Limited Series About The Greatest Soccer Team Of All Time: Netflix Releases The Trailer And Poster For Brazil '70: The Third Star

Back to All News Limited Series About The Greatest Soccer Team Of All Time: Net...

05/05/2026

FOX Sports, FOX One and Indeed Launch Nationwide Search for FOX One Chief World Cup Watcher Hired Through Indeed

FOX Sports, FOX One and Indeed Launch Nationwide Search for FOX One Chief World...

05/05/2026

Nippon TV and FOR-A Win Dual Awards for viztrick AiDi: NAB's Product of the Year and Future's Best of Show

GoVertical! Technology Recognized for Ability to Provide Real-Time 9:16 Autocrop...

04/05/2026

just:play pro 2026 and just:live pro 2026 are available to download!

just:play pro 2026 and just:live pro 2026 are available to download! More Details:At NAB 2026, ToolsOnAir showcased just:play pro 2026 and just:live pro 2026, ...

04/05/2026

just:in mac pro 2026 - The Next Level of Professional Recording on macOS

just:in mac pro 2026 - The Next Level of Professional Recording on macOS More Details:The headline innovation in just:in mac pro 2026 is the new Auto format si...

04/05/2026

SVG Sit-Down: NEP Americas Mike Werteen on How Great Tech, Better People Drive Success

Hardware is still an emphasis - Supershooter 11 is new, and REMI-based 65 is in ...

04/05/2026

Beyond 90 Minutes: How K League's Soccer Blueprint for Growth Has Lessons for Everyone

Head of International Business Development Min Joo Kim explores the league's...

04/05/2026

Audio-Technica ATND1061 and ATUC Discussion Systems Certified for Crestron Automate VX

Audio-Technica has announced that its ATND1061 ceiling array microphone and ATUC...

04/05/2026

Triple B Media Launches Bowling TV, a 24/7 FAST Channel Dedicated to Bowling

Triple B Media has launched Bowling TV, a free ad-supported television (FAST) channel dedicated to bowling. The channel is available on Prime Video, LG Channels...

04/05/2026

PlayMetrics Acquires SportsEngine from Versant

PlayMetrics, a provider of operations management software for youth sports organizations, has announced the completion of its acquisition of substantially all t...

04/05/2026

IHSE GmbH Appoints Dr. Thomas Niessen as CEO

IHSE GmbH has announced that Dr. Thomas Niessen has joined as CEO and Managing Director, effective May 1, 2026. He joins Frank Breitenfelder, who has served as ...

04/05/2026

PMY Group Deploys Optic Crowd Intelligence Platform at Australian Formula 1 Grand Prix

PMY Group deployed its AI-powered crowd intelligence platform, Optic, at the For...

04/05/2026

Behind The Mic: Stephen A. Smith and Skip Bayless to Reunite for First Take Episode; Donna Brothers Worked Final Kentucky Derby

Behind The Mic provides a roundup of recent news regarding on-air talent, includ...

04/05/2026

Spotify Brings Fashion and Podcasting Together With Mina Le and Mia Calabrese

Last week, guests gathered in New York City for On Air, In Style: An Evening with Spotify-a night of conversation, culture, and connection celebrating the inter...

04/05/2026

Avid introduce Pro Tools 2026.4

New music & post-production features added Avid's latest DAW update delivers an array of helpful features aimed at both music and post-production users,...

04/05/2026

SAG-AFTRA, Studios Reach Tentative Agreement

Share Copy link Facebook X Linkedin Bluesky Email...

04/05/2026

Study: Paramount-WBD Deal Signals New Era of Streaming Scale

Share Copy link Facebook X Linkedin Bluesky Email...

04/05/2026

Student Spotlight: Joshua Griffin

Student Spotlight: Joshua Griffin The New Orleans native, who was named the 2026 student commencement speaker for Boston Conservatory at Berklee, talks about ...

04/05/2026

It's Andrew! stomps onto screens this June

It's Andrew! stomps onto screens this June 4 May 2026 The ABC and Screen Australia are delighted to announce that brand new preschool series, It's Andr...

03/05/2026

Melbourne Instruments' Nina gains Braids engine

Polysynth now features Mutable Instruments' macro oscillators Melbourne Instruments have just released a free firmware update that brings the engine beh...

03/05/2026

Introducing the new Mistika Workflows Suite: transformative and cost-effective for every user

Introducing the new Mistika Workflows Suite: transformative and cost-effective f...

03/05/2026

Introducing the new Mistake Workflows Suite: transformative and cost-effective for every user

Introducing the new Mistake Workflows Suite: transformative and cost-effective f...