Saturday, August 9, 2025
Science
No Result
View All Result
  • Login
  • HOME
  • SCIENCE NEWS
  • CONTACT US
  • HOME
  • SCIENCE NEWS
  • CONTACT US
No Result
View All Result
Scienmag
No Result
View All Result
Home Science News Medicine

Groundbreaking study connects genetic risk for autism to changes observed in the brain

May 23, 2024
in Medicine
Reading Time: 3 mins read
0
Groundbreaking study connects genetic risk for autism to changes observed in the brain
68
SHARES
614
VIEWS
Share on FacebookShare on Twitter
ADVERTISEMENT
ADVERTISEMENT

A groundbreaking study led by UCLA Health has unveiled the most detailed view of the complex biological mechanisms underlying autism, showing the first link between genetic risk of the disorder to observed cellular and genetic activity across different layers of the brain.  

A groundbreaking study led by UCLA Health has unveiled the most detailed view of the complex biological mechanisms underlying autism, showing the first link between genetic risk of the disorder to observed cellular and genetic activity across different layers of the brain.  

The study is part of the second package of studies from the National Institutes of Health consortium, PsychENCODE. Launched in 2015, the initiative, chaired by UCLA neurogeneticist Dr. Daniel Geschwind, is working to create maps of gene regulation across different regions of the brain and different stages of brain development. The consortium aims to bridge the gap between studies on the genetic risk for various psychiatric disorders and the potential causal mechanisms at the molecular level.  

“This collection of manuscripts from PsychENCODE, both individually and as a package, provides an unprecedented resource for understanding the relationship of disease risk to genetic mechanisms in the brain,” Geschwind said. 

Geschwind’s study on autism, one of nine published in the May 24 issue of Science, builds on decades of his group’s research profiling the genes that increase the susceptibility to autism spectrum disorder and defining the convergent molecular changes observed in the brains of individuals with autism. However, what drives these molecular changes and how they relate to genetic susceptibility in this complex condition at the cellular and circuit level are not well understood.  

Gene profiling for autism spectrum disorder, with a few exceptions in smaller studies, has long been limited to using bulk tissue from brains from autistic individuals after death. These tissue studies are unable to provide detailed information such as the differences in brain layer, circuit level and cell type-specific pathways associated with autism as well as mechanisms for gene regulation. 

To address this, Geschwind used advances in single-cell assays, a technique that makes it possible to extract and identify the genetic information in the nuclei of individual cells. This technique provides researchers the ability to navigate the brain’s complex network of different cell types.  

More than 800,000 nuclei were isolated from post-mortem brain tissue of 66 individuals from ages 2 to 60, including 33 individuals with autism spectrum disorder and 30 neurotypical individuals who acted as controls. The individuals with autism included five with a defined genetic form called 15q duplication syndrome. Each sample was matched by age, sex, and cause of death balanced across cases and controls. 

Through this, Geschwind and his team were able to identify the major cortical cell types affected in autism spectrum disorder, which included both neurons and their support cells, known as glial cells. In particular, the study found the most profound changes in the neurons that connect the two hemispheres and provide long range connectivity between different brain regions and a group of interneurons, called somatostatin interneurons that are important for maturation and refinement of brain circuits.  

A critical aspect of this study was the identification of specific transcription factor networks – the web of interactions whereby proteins control when a gene is expressed or inhibited – that drive these changes that were observed. Remarkably, these drivers were enriched in known high-confidence autism spectrum disorder risk genes and influenced large changes in differential expression across specific cell subtypes. This is the first time that a potential mechanism connects changes occurring in brain in ASD directly to the underlying genetic causes. 

Identifying these complex molecular mechanisms underlying autism and other psychiatric disorders studied could work to develop new therapeutics to treat these disorders. 

“These findings provide a robust and refined framework for understanding the molecular changes that occur in brains in people with ASD — which cell types they occur in and how they relate to brain circuits,” Geschwind said. “They suggest that the changes observed are downstream of known genetic causes of autism, providing insight into potential causal mechanisms of the disease.” 

Article: Molecular cascades and cell type–specific signatures in ASD revealed by single-cell genomics, Published May 24, 2024, Wamsley et al., Science, 2024, http://www.science.org/doi/10.1126/science.adh2602 



Journal

Science

DOI

10.1126/science.adh2602

Subject of Research

People

Article Title

Molecular cascades and cell type – specific signatures in ASD revealed by single-cell genomics

Article Publication Date

23-May-2024

COI Statement

The authors declare that they have no competing interests

Share27Tweet17
Previous Post

Study: Integration of pharmacies with physician practices has little impact on cancer drug expenditures

Next Post

Study: increase in taxpayers reporting self-employment earnings cannot be attributed to increase in gig work

Related Posts

blank
Medicine

AI Synthesizes Causal Evidence Across Study Designs

August 9, 2025
blank
Medicine

Non-Coding Lung Cancer Genes Found in 13,722 Chinese

August 9, 2025
blank
Medicine

DeepISLES: Clinically Validated Stroke Segmentation Model

August 9, 2025
blank
Medicine

Mitochondrial Metabolic Shifts Fuel Colorectal Cancer Resistance

August 9, 2025
blank
Medicine

Cholesterol Balance Drives Recovery After Revascularization

August 9, 2025
blank
Medicine

Evolving Plasmodium falciparum Drug Resistance in Uganda

August 9, 2025
Next Post
Study: increase in taxpayers reporting self-employment earnings cannot be attributed to increase in gig work

Study: increase in taxpayers reporting self-employment earnings cannot be attributed to increase in gig work

  • Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study

    Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study

    27531 shares
    Share 11009 Tweet 6881
  • University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept

    943 shares
    Share 377 Tweet 236
  • Bee body mass, pathogens and local climate influence heat tolerance

    641 shares
    Share 256 Tweet 160
  • Researchers record first-ever images and data of a shark experiencing a boat strike

    507 shares
    Share 203 Tweet 127
  • Warm seawater speeding up melting of ‘Doomsday Glacier,’ scientists warn

    310 shares
    Share 124 Tweet 78
Science

Embark on a thrilling journey of discovery with Scienmag.com—your ultimate source for cutting-edge breakthroughs. Immerse yourself in a world where curiosity knows no limits and tomorrow’s possibilities become today’s reality!

RECENT NEWS

  • Mulberry Vinegar Fights Cognitive Decline via NF-κB
  • Cognitive Motivation Drives Foreign Language Learning and Use
  • Cross-Vendor Diagnostic Imaging Revolutionized by Federated Learning
  • AI Synthesizes Causal Evidence Across Study Designs

Categories

  • Agriculture
  • Anthropology
  • Archaeology
  • Athmospheric
  • Biology
  • Bussines
  • Cancer
  • Chemistry
  • Climate
  • Earth Science
  • Marine
  • Mathematics
  • Medicine
  • Pediatry
  • Policy
  • Psychology & Psychiatry
  • Science Education
  • Social Science
  • Space
  • Technology and Engineering

Subscribe to Blog via Email

Enter your email address to subscribe to this blog and receive notifications of new posts by email.

Join 4,860 other subscribers

© 2025 Scienmag - Science Magazine

Welcome Back!

Login to your account below

Forgotten Password?

Retrieve your password

Please enter your username or email address to reset your password.

Log In
No Result
View All Result
  • HOME
  • SCIENCE NEWS
  • CONTACT US

© 2025 Scienmag - Science Magazine

Discover more from Science

Subscribe now to keep reading and get access to the full archive.

Continue reading