Study links gene mutation to neurodevelopmental disorders

November 2, 2018 by Elaine Schmidt, University of California, Los Angeles
Credit: Jelleke Vanooteghem/Unsplash

A new model created by UCLA scientists reveals how the alteration of a specific gene increases the risk for neurodevelopmental problems in mice. When the researchers mutated the gene, it produced symptoms at specific ages in the animal's life.

Called Glut3, this gene is responsible for moving glucose—the fuel essential to normal function—into brain cells, and plays a crucial role in during early pregnancy.

Previous studies have linked a GLUT3 mutation in mice to miscarriage and restriction of the fetus' growth in the last trimester of pregnancy.

"Our findings could lead to new insights for preventing and treating pediatric neurodevelopmental conditions such as autism, anxiety disorders and attention deficit/hyperactivity disorder," said lead author Dr. Sherin Devaskar, physician-in-chief of UCLA Mattel Children's Hospital and executive director of the UCLA Children's Discovery and Innovation Institutes.

The Eunice Kennedy Shriver National Institute of Child Health and Human Development supported the study, which is published in the Journal of Neuroscience.

Explore further: Scientists identify mechanism that may explain why males are more at risk than females for neurodevelopmental disorders

More information: Bo-Chul Shin et al. Neural Deletion of Glucose Transporter Isoform 3 Creates Distinct Postnatal and Adult Neurobehavioral Phenotypes, The Journal of Neuroscience (2018). DOI: 10.1523/JNEUROSCI.0503-18.2018

Related Stories

Scientists identify mechanism that may explain why males are more at risk than females for neurodevelopmental disorders

July 3, 2018
Researchers have recently begun to realize that biological sex plays a key role in disease risk. Sex plays a role in hypertension, diabetes, arthritis—and in many neurological and psychiatric disorders. Depression and anxiety ...

Gene mutation can cause brain malformation in children

July 6, 2017
Researchers from Cardiff University and Université Libre de Bruxelles have identified how the function of a key gene significantly impacts nerve stem cell growth, and how it can lead to abnormal brain development in unborn ...

Children born to obese, overweight mothers may be at higher risk for neurodevelopmental problems, study finds

November 22, 2017
Compared with children of normal-weight mothers, children born to mothers who were overweight or obese immediately prior to pregnancy are at a higher risk for neurodevelopmental problems including attention deficit disorder, ...

Study finds children with autism and ADHD at higher rise for anxiety

March 30, 2018
Children with both autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are at increased risk for being diagnosed with or treated for anxiety and mood disorders, according to a study published ...

New brain development disorder identified by scientists

May 22, 2018
Researchers have identified a new inherited neurodevelopmental disease that causes slow growth, seizures and learning difficulties in humans.

TGen-led study shows mutated gene is likely cause of 3-year-old girl's severe disorder

July 23, 2018
A young girl with severe neurological symptoms finally has a diagnosis, following the discovery by the Translational Genomics Research Institute (TGen) of a genetic mutation that likely caused the girl to experience a cascade ...

Recommended for you

Cell study reveals how head injuries lead to serious brain diseases

November 16, 2018
UCLA biologists have discovered how head injuries adversely affect individual cells and genes that can lead to serious brain disorders. The life scientists provide the first cell "atlas" of the hippocampus—the part of the ...

Newborn babies' brain responses to being touched on the face measured for the first time

November 16, 2018
A newborn baby's brain responds to being touched on the face, according to new research co-led by UCL.

When your brain won't hang up: Sustained connections associated with symptoms of autism

November 16, 2018
For decades, scientists have examined how regions of the brain communicate to understand autism. Researchers at University of Utah Health believe the symptoms of autism may result from sustained connections between regions ...

Progress in genetic testing of embryos stokes fears of designer babies

November 16, 2018
Recent announcements by two biotechnology companies have stoked fears that designer babies could soon be an option for those who can afford to pick and choose which features they want for their offspring. The companies, MyOme ...

Gene editing possible for kidney disease

November 16, 2018
For the first time scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave the way for personalised treatment in the future.

Sucking your baby's pacifier may benefit their health

November 16, 2018
Many parents probably think nothing of sucking on their baby's pacifier to clean it after it falls to the ground. Turns out, doing so may benefit their child's health.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.