Study Shows a Solitary Mutation Can Destroy Critical Window' of Early Brain Development JUPITER, FL, June 21, 2013 Scientists from the Florida campus of The Scripps Research Institute (TSRI) have shown in animal models that brain damage caused by the loss of a single copy of a gene during very early childhood development can cause a lifetime of behavioral and intellectual problems.
The study, published this week in the Journal of Neuroscience, sheds new light on the early development of neural circuits in the cortex, the part of the brain responsible for functions such as sensory perception, planning and decision-making.
The research also pinpoints the mechanism responsible for the disruption of what are known as windows of plasticity that contribute to the refinement of the neural connections that broadly shape brain development and the maturing of perception, language, and cognitive abilities.
The key to normal development of these abilities is that the neural connections in the brain cortex the synapses mature at the right time.
In an earlier study, the team, led by TSRI Associate Professor Gavin Rumbaugh, found that in mice missing a single copy of the vital gene, certain synapses develop prematurely within the first few weeks after birth. This accelerated maturation dramatically expands the process known as excitability how often brain cells fire in the hippocampus, a part of the brain critical for memory. The delicate balance between excitability and inhibition is especially critical during early developmental periods. However, it remained a mystery how early maturation of brain circuits could lead to lifelong cognitive and behavioral problems.
The current study shows in mice that the interruption of the synapse-regulating gene known as SYNGAP1 which can cause a devastating form of intellectual disability and increase the risk for developing autism in humans induces early functional maturation of neural connections in two areas of the cortex. The influence of this disruption is widespread throughout the developing brain and appears to degrade the duration of these critical windows of plasticity.
In this study, we were able to directly connect early maturation of synapses to the loss of an important plasticity window in the cortex, Rumbaugh said. Early maturation of synapses appears to make the brain less plastic at critical times in development. Children with these mutations appear to have brains that were built incorrectly from the ground up.
The accelerated maturation also appeared to occur surprisingly early in the developing cortex. That, Rumbaugh added, would correspond to the first two years of a child's life, when the brain is expanding rapidly. Our goal now is to figure out a way to prevent the damage caused by SYNGAP1 mutations. We would be more likely to help that child if we could intervene very early on before the mutation has done its damage, he said.
The first author of the study, SYNGAP1 Links the Maturation Rate of Excitatory Synapses to the Duration of Critical-Period Synaptic Plasticity, is James P. Clement of TSRI. Other authors include Emin D. Ozkan, Massimiliano Aceti and Courtney A. Miller, also of TSRI. For more information, see http://www.jneurosci.org/content/33/25/10447.full
This work was supported by the National Institute for Neurological Disorders and Stroke (grant R01NS064079), the National Institute for Mental Health (grant R01MH096847) and the National Institute for Drug Abuse (grants R01 DA034116 and R03 DA033499).
About The Scripps Research Institute
The Scripps Research Institute (TSRI) is one of the worlds largest independent, not-for-profit organizations focusing on research in the biomedical sciences. TSRI is internationally recognized for its contributions to science and health, including its role in laying the foundation for new treatments for cancer, rheumatoid arthritis, hemophilia, and other diseases. An institution that evolved from the Scripps Metabolic Clinic founded by philanthropist Ellen Browning Scripps in 1924, the institute now employs about 3,000 people on its campuses in La Jolla, CA, and Jupiter, FL, where its renowned scientists including three Nobel laureates work toward their next discoveries. The institutes graduate program, which awards PhD degrees in biology and chemistry, ranks among the top ten of its kind in the nation. For more information, see www.scripps.edu.
# # #
For information:
Office of Communications
Tel: 858-784-2666
Fax: 858-784-8136
press@scripps.edu
Most recent headlines
01/01/2026
Latin Grammy Cultural Foundation Announces 2026 Noel Schajris Scholarship The scholarship will cover tuition and housing for one Berklee College of Music stud...
01/01/2026
New year, new games, all with RTX 5080-powered cloud energy. GeForce NOW is kicking off 2026 by looking back at an unforgettable year of wins and wildly high fr...
31/12/2025
Back to All News
NFL Christmas Gameday on Netflix Scores Again With the Lions-V...
30/12/2025
As the College Football Playoff Enters the Quarterfinals, ESPN Blows Out Its Meg...
30/12/2025
SVG's Best of 2025: Original ArticlesTake a look back at all our coverage of big-time productions, game-changing technologies, and state-of-the-art new faci...
30/12/2025
MELBOURNE, Fla., Dec. 30, 2025 - L3Harris Technologies (NYSE: LHX) will release its fourth quarter 2025 financial results before the market opens on Thursday, J...
30/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
30/12/2025
It marked the first civilian operational authorization for a HAPS flight in Europe, led by Space42's subsidiary, Mira Aerospace
The flight demonstrated HAP...
29/12/2025
San Francisco 49ers Strike Gold With Halftime Laser SpectacularStunning display caps $200 million renovation of Levi's Stadium techBy Dan Daley, Audio Edito...
29/12/2025
The Cup's Around the Corner: An Inside Look at Broadcast Preparations for th...
29/12/2025
SVG's Best of 2025: Longform VideoWatch the standout keynote conversations, deep dives, and panel discussions from the year for free on SVG PLAY!By Brandon ...
29/12/2025
From crisper Lossless audio and immersive music videos in beta to new Audiobooks+ plans, custom transitions between tracks, and in-app Messages, we keep levelin...
29/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
27/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
26/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
26/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
25/12/2025
Holiday lights are twinkling, hot cocoa's on the stove and gamers are settling in for a well-earned break.
Whether staying in or heading on a winter getawa...
24/12/2025
What is AI good for? Posted by MTI Film on December 24, 2025
What is AI good for?
What is AI good for?
It's been three years since ChatGPT first cap...
24/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
24/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
24/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
24/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
24/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
24/12/2025
Back to All News
The Boyfriend' Season 2 Unveils Heartwarming Trailer, Key...
24/12/2025
Back to All News
Love, Fights, and Everything in Between: Badly in Love' Returns for Season 2
Entertainment
24 December 2025
GlobalJapan
Link copied t...
24/12/2025
Scripps Research study links sleep variability with sleep apnea and hypertension How consumers' digital activity trackers could enable personalized health s...
23/12/2025
How guilas Cibae as Dominican Winter League Games Are Locally Produced for Glob...
23/12/2025
BitFire's Jim Akimchuk on Supplying Scalability and Customization in the Clo...
23/12/2025
CAMB.AI Enables European Athletics to Offer Multi-Language SupportPlan is to eventually offer translation into all languages spoken in EuropeBy Ken Kerschbaumer...
23/12/2025
Analysis: As sports media values trend negative, scarcity and quality are king By Callum McCarthy, Editor-at-Large
Monday, December 22, 2025 - 14:08
Print ...
23/12/2025
ESPN, Disney, and NBA Return to the Animated Altcast Fray With Second Edition of...
23/12/2025
End the Year on a High Note and Donate to the Sports Broadcasting Fund Today!By Ken Kerschbaumer, Editorial Director
Tuesday, December 23, 2025 - 12:25 pm
P...
23/12/2025
The year is winding down, the weather outside is frightful, and it's the perfect time to escape into a story that warms the heart. For listeners looking for...
23/12/2025
A Zeus motor is hot fire tested at L3Harris' Camden, Arkansas, solid rocket ...
23/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
23/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
23/12/2025
Lightware will exhibit several major product innovations at ISE 2026, including the new USB-C BOOSTER-V1, Google Meet. integration for various Taurus UCX models...
23/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
23/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
23/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
23/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
23/12/2025
Share Share by:
Copy link
Facebook
X
Whatsapp
Pinterest
Flipboard...
23/12/2025
Taking the Stage at Carnegie Hall-On a Global Scale Boston Conservatory Orchestra students reflect on their epic concert marking the 80th session of the UN Gene...
23/12/2025
Back to All News
Netflix's The Great Flood and Culinary Class Wars 2 Top Gl...
23/12/2025
Back to All News
Stranger Things By the Numbers: How the Global Phenomenon Shap...
23/12/2025
Experience the power of WO Automation for Radio's newest service, the System Effectiveness Review. Designed to help you achieve more, a System Effectiveness...
23/12/2025
23 Dec 2025
VEON's Beeline Kazakhstan and Rakuten Symphony Collaborate to A...
23/12/2025
Back to All News
How Steamy Can It Get? Single's Inferno' Season 5 Pre...
23/12/2025
Back to All News
33 Million Global Viewers on Netflix Watched Jake Paul vs. Ant...
Study Shows a Solitary Mutation Can Destroy Critical Window' of Early Brain Development JUPITER, FL, June 21, 2013 Scientists from the Florida campus of The Scripps Research Institute (TSRI) have shown in animal models that brain damage caused by the loss of a single copy of a gene during very early childhood development can cause a lifetime of behavioral and intellectual problems.
