Woo-Yang Kim, Ph.D.
A breakthrough in finding the mechanism and a possible therapeutic fix for autism and intellectual disability has been made by a University of Nebraska Medical Center researcher and his team at the Munroe-Meyer Institute (MMI).
Woo-Yang Kim, Ph.D., associate professor, developmental neuroscience, led a team of researchers from UNMC and Creighton University into a deeper exploration of a genetic mutation that reduces the function of certain neurons in the brain.
Dr. Kim’s findings were published in this week’s online issue of Nature Neuroscience.
“This is an exciting development because we have identified the pathological mechanism for a certain type of autism and intellectual disability,” Dr. Kim said.
Recent studies have shown that the disorder occurs when a first-time mutation causes only one copy of the human AT-rich interactive domain 1B (ARID1B) gene to remain functional, but it was unknown how it led to abnormal cognitive and social behaviors.
Autism spectrum disorder (ASD) impairs the ability of individuals to communicate and interact with others. About 75 percent of individuals with ASD also have intellectual disability, which is characterized by significant limitations in cognitive functions and adaptive behaviors.
There are no drugs or genetic treatments to prevent ASD or intellectual disability; the only treatment options focus on behavioral management and educational and physical therapies.
The team created and analyzed a genetically modified mouse and found that a mutated Arid1b gene impairs GABA neurons, the ‘downer’ neurotransmitter, leading to an imbalance of communication in the brain.
GABA blocks impulses between nerve cells in the brain. Low levels of GABA may be linked to anxiety or mood disorders, epilepsy and chronic pain. It counters glutamate (the upper neurotransmitter), as the two mediate brain activation in a Yin and Yang manner. People take GABA supplements for anxiety.
“In normal behavior, the brain is balanced between excitation and inhibition,” Dr. Kim said. “But when the inhibition is decreased, the balance is broken and the brain becomes more excited causing abnormal behavior.
“We showed that cognitive and social deficits induced by an Arid1b mutation in mice are reversed by pharmacological treatment with a GABA receptor modulating drug. And, now we have a designer mouse that can be used for future studies.”
Next steps for Dr. Kim and his team are to even further refine the specific mechanism for autism and intellectual disability and to identify which of the many GABA neurons are specifically involved.
Learn more: Research suggests potential treatment for autism, intellectual disability
The Latest on: Autism and intellectual disability
- Nassim: Nashville restauranteur makes room in her kitchen for helper with autismon June 10, 2022 at 4:38 am
Disability columnist Adria Nassim writes of a Nashville chef who created a space for people with disabilities to learn life skills through work.
- Kids on the autism spectrum experience more bullying. Schools can do something about iton June 9, 2022 at 7:19 am
Children diagnosed with neurodevelopmental disorders, such as autism, experience various types of challenges at school. This might be due to communication, and also relationships with other children.
- Two top autism-linked proteins connect to build cell ‘skeleton’on June 9, 2022 at 4:00 am
ADNP and SHANK3 proteins may bind together and alter a neuron’s internal scaffold, hinting at a mechanism that, when disrupted, may underlie several forms of autism.
- For many Quebec kids with disabilities, dreams of camp are dashed this summeron June 9, 2022 at 1:00 am
Some parents of children with disabilities in Quebec City got a bitter surprise earlier this week, when they learned that the Patro Roc-Amadour day camp wouldn’t be operating this year.
- West Virginia law enforcement to receive autism spectrum disorder trainingon June 8, 2022 at 6:54 am
West Virginia will hold a statewide training initiative to provide training to law enforcement officers to safely navigate interactions with those with an autism spectrum disorder. The Safe ...
- Study Uncovers Important Factor in the Underlying Causes of Autism Riskon June 7, 2022 at 12:55 am
Scientists have made a key discovery relating to the development of the brain. This new information contributes to our understanding of how the neocortex develops and offers insights into what causes ...
- Broad spectrum of autism depends on spectrum of genetic factorson June 2, 2022 at 10:59 am
Autism Spectrum Disorder (ASD) is referred to as a "spectrum" because clinical features of ASD range from mild social impairments in some people to severe intellectual disability or epilepsy in others ...
- Colleges to get €3 million euro a year to support students with autismon June 2, 2022 at 10:45 am
HIGHER EDUCATION INSTITUTIONS will receive a total of €3 million a year until 2025 to implement new initiatives that support autistic students and those with an intellectual disability access third ...
- Prenatal exposure to antiseizure drugs associated with risk of autism and intellectual disabilityon June 1, 2022 at 10:04 pm
Women with epilepsy often need medication to prevent seizures during pregnancy. Previous studies have found an association between exposure to the antiseizure medication valproate during pregnancy and ...
- €12m to help universities admit more students with autism and intellectual disabilitieson June 1, 2022 at 4:01 pm
Minister for Further and Higher Education Simon Harris said there has never been a focus on how many students with an intellectual disability or autism have entered or completed third level. “These ...
via Google News and Bing News
