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Studies of autism spectrum disorder reveal new avenues of neuroscience research

October 21, 2019

CHICAGO -- Advances in the study of cognitive disorders, including Autism Spectrum Disorder (ASD), may pave the way for future treatments. The findings were presented at Neuroscience 2019, the annual meeting of the Society for Neuroscience and the world's largest source of emerging news about brain science and health.

ASD affects one in 59 children in the U.S., according to the Center for Disease Control and Prevention's Autism and Developmental Disabilities Monitoring Network. Hundreds of genes as well as other biological factors contribute to the condition, and the exact interplay between them is not well understood. New research has been able to isolate and study specific features of ASD within the brain, while new technologies offer a previously unavailable nuance and depth to this research. These advances may ultimately contribute to the development of therapeutic treatments for those with ASD.

Today's new findings show that:
  • Early loss of a critical placental hormone is linked to cerebellar white matter impairment and an increased in repetitive behaviors and social deficits associated with ASD in a mouse model. (Anna Penn, Children's National Medical Center)
  • The CRISPR/Cas9 gene-editing tool can be used in non-human primate models to reveal previously unknown neuropathological defects associated with two mutated genes that are strongly implicated in ASD. (Yong Zhang, Chinese Academy of Sciences)
  • Using induced pluripotent stem cell technology to create human neurons, studies of two autism-related genes located at synapses in the brain reveal significant changes in the electrical activity between cortical neurons, affecting information transfer in the brain. (Mark Kotter, University of Cambridge)
"These studies offer significant new directions for the study of ASD and have the potential to expand our understanding of the complexities of the condition in the brain," said press conference moderator Manny DiCicco-Bloom, MD, professor at Rutgers University Robert Wood Johnson Medical School who studies nervous system development. "Continuing to move forward on research like this helps move the needle towards screening of drugs and clinical trials for those suffering from these disorders."

This research was supported by national funding agencies including the National Institutes of Health and private funding organizations. Find out more about Autism Spectrum Disorder and other cognitive disorders on BrainFacts.org.

Related Neuroscience 2019 Presentation

Minisymposium: Novel Mechanistic Roles for Sodium Channels in Neurodevelopmental Disorders

Sunday, Oct. 20, 8:30 - 11:00 a.m., Room S105

Autism Press Conference Summary
  • Two of these studies focus on innovative ways to study genes relevant to ASD; another seeks to reveal connections between placental hormones and brain development.
  • These studies focus on fetal brain development; more suitable non-human primate models for studying genetic defects underlying ASD; and a new understanding of ASD synapses using iPSC technology.
  • CRISPR/Cas9 facilitate the investigation of genetic mechanisms in two of these studies, whereas the use of stem cells from hair follicles aid the third.
Preterm ASD Risk Linked to Cerebellar White Matter Changes Anna Penn, APenn@childrensnational.org, Abstract 103.07
  • Hormones produced by the placenta are essential to fetal brain development. Hormonal alterations caused by, e.g., preterm births, preeclampsia, and infection may underlie brain disorders, including Autism Spectrum Disorder (ASD), epilepsy, and other neurodevelopmental deficits.
  • Allopregnanolone (or ALLO) is a hormone produced by the placenta that has been implicated in signal transmission in the brain. To study the role of ALLO in brain development, researchers developed a mouse model that lacked the gene for the synthesis of ALLO.
  • Loss of placental ALLO production during development structurally altered the white matter of the cerebellum, particularly the myelin. Mice without ALLO exposure exhibited hallmarks of ASD. A single injection of ALLO during gestation, however, resulted in normal brain development and behavior.
Modeling Autism Using Non-Human Primates Yong Zhang, zhangym700@163.com, Abstract 103.04
  • The mutation of two genes, SHANK3 and CHD8, are among the major replicated genetic defects underlying ASD. Previous studies investigating these genes have focused on mouse models, but because of their similarities to humans, non-human primates are considered more suitable as models for the study of ASD.
  • Using CRISPR/Cas9, researchers disrupted SHANK3 and CHD8 in monkeys and compared the brain development and behavior of monkeys with and without these mutations. Monkeys with the mutation showed neural deficits and behavioral impairment that could not be shown in rodents.
  • This is the first demonstration that genetically modified non-human primates can be used for effective ASD therapeutic research and reveal previously unknown effects.
Investigating the Role of Autism Related Presynaptic NRXN1 and Postsynaptic SHANK3 in Synaptic Mechanisms Using Human Stem Cell Derived Cortical Neurons

Mark Kotter, mrk25@cam.ac.uk, Abstract 116.03
  • Two genes, NRXN1 and SHANK3, exist at the synapses of neurons. Deletions of these genes are known to contribute significantly to the risk of ASD, but the underlying mechanism by which the genes impact information transfer is not well understood.
  • Using induced pluripotent stem cells from hair follicles of individuals lacking the genes, researchers found that neuronal electrical activity was significantly different, suggesting that these synaptic genes may differentially regulate information transfer in the brain.
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About the Society for Neuroscience

The Society for Neuroscience is the world's largest organization of scientists and physicians devoted to understanding the brain and nervous system. The nonprofit organization, founded in 1969, now has nearly 37,000 members in more than 90 countries and over 130 chapters worldwide.

Society for Neuroscience

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