New Autism Genes Discovered

October 5, 2022 by Dan McCue
New Autism Genes Discovered
Jake Michaelson, PhD, associate professor of psychiatry in the UI Carver College of Medicine

IOWA CITY, Iowa – A multi-institutional research team, using genetic data from nearly 43,000 autistic individuals and their families, has identified 60 autism spectrum-associated genes with exome-wide significance, including five new genes not previously implicated in neurodevelopmental disorders.  

The results of their work were published in the journal Nature Genetics.

Previous studies involving millions of people have already shown that autism is mostly heritable, but those studies stopped short of identifying specific genes and mechanisms involved in autism. 

Other research that has identified specific genes strongly associated with autism has focused on new or “de novo” mutations found in the genome of a child with autism but not inherited from their parents’ genome. 

These de novo mutations are usually also associated with intellectual disability. However, most autistic individuals do not have this type of mutation, so they only represent a small part of the genetic picture.  

In contrast, the new study focused on rare genetic variations that are inherited by the child with autism from a parent who does not have autism.

“We found that these inherited variants are less associated with intellectual disability, and they expand our view of what developmental mechanisms are being impacted in autism,” said Jake Michaelson, Ph.D., associate professor of psychiatry at the University of Iowa Carver College of Medicine.

Michaelson led a team of University of Iowa scientists who contributed to the new study.

“Ultimately this knowledge will help us better understand subtypes of autism that each have different support, resource, and treatment needs,” he said.

The multi-institutional research team led by scientists at Columbia University Medical Center analyzed 19,843 participants with autism, along with one or both of their biological parents, and found that roughly 20% of people with autism have de novo genetic variants that affect the function of the associated gene. 

Nearly 70% of this genetic contribution can be attributed to known autism or neurodevelopmental disorder genes. However, this means that although known autism-associated genes are responsible for the majority of risk related to de novo variants, there are others still to be identified.

The researchers then added in another 22,764 individuals with autism and 236,000 people without autism from the general population.

In this meta-analysis, they identified 60 autism genes whose contribution to autism is largely driven by rare inherited loss of function variants transmitted by parents who do not have cognitive differences or autism. Of these genes, five have not previously been implicated in neurodevelopmental conditions.  

Individuals with autism who carry inherited variants in these “moderate effect” genes are less likely to have cognitive differences than people with autism who carry LOF variants in well-established autism genes, such as CHD8 and SCN2A.

“We are essentially making a map of autism genetics that tells us what the major molecular mechanisms are,” Michaelson explains. “It feels sort of like a Lewis and Clark-type expedition, where you know there’s this huge (unexplored) territory, but its contours and variety haven’t yet been well described.”

Dan can be reached at [email protected] and at https://twitter.com/DanMcCue.

A+
a-
  • autism
  • Columbia University Medical Center
  • genes
  • Research
  • University of Iowa
  • In The News

    Health

    Voting

    Health

    A Year After Jimmy Carter Entered Hospice Care, Advocates Hope His Endurance Drives Awareness

    ATLANTA (AP) — Since Jimmy Carter entered hospice care at his home in south Georgia one year ago, the former U.S. president... Read More

    ATLANTA (AP) — Since Jimmy Carter entered hospice care at his home in south Georgia one year ago, the former U.S. president has celebrated his 99th birthday, enjoyed tributes to his legacy and lost his wife of 77 years. Rosalynn Carter, who died in November, about six months after the Carter... Read More

    February 20, 2024
    by Jesse Zucker
    The Impact of Human Connection on Your Health

    WASHINGTON —  As we trudge through the winter, months of cold and dreary weather may sap our desire to go... Read More

    WASHINGTON —  As we trudge through the winter, months of cold and dreary weather may sap our desire to go outside and socialize. While it’s normal to isolate sometimes, chronic isolation can increase loneliness and be detrimental to your mental and physical health.  Scrolling on social... Read More

    February 20, 2024
    by Jesse Zucker
    Everything You Need to Know About Protein

    WASHINGTON — There is a lot of misinformation in the world of nutrition. Macronutrients and calories get demonized while magical... Read More

    WASHINGTON — There is a lot of misinformation in the world of nutrition. Macronutrients and calories get demonized while magical supplements promise to help you lose weight. Thankfully, protein stays strong throughout all the wild trends — and for good reason. If you’ve ever been told... Read More

    February 14, 2024
    by Dan McCue
    New York City Sues Social Media Platforms for ‘Fueling’ Mental Health Crisis

    NEW YORK — The city of New York and its health and education departments sued five social media platforms on... Read More

    NEW YORK — The city of New York and its health and education departments sued five social media platforms on Wednesday, saying they need to be held accountable for fueling a mental health crisis among youths across the nation. The announcement of the lawsuit against TikTok,... Read More

    February 14, 2024
    by Dan McCue
    COVID Vax, Booster During Pregnancy Bolsters Protections for Newborns

    WASHINGTON — Women who receive an mRNA-based COVID-19 vaccination or booster during pregnancy can provide their infants with significant protection... Read More

    WASHINGTON — Women who receive an mRNA-based COVID-19 vaccination or booster during pregnancy can provide their infants with significant protection against COVID-19 for at least six months after birth, a new study found. The research was conducted by the Infectious Diseases Clinical Research Consortium and published... Read More

    Mental Health Emerges as Dividing Line in Abortion Rights Initiatives Planned for State Ballots

    CHICAGO (AP) — The weeks after Kaniya Harris found out she was pregnant were among the hardest in her life.... Read More

    CHICAGO (AP) — The weeks after Kaniya Harris found out she was pregnant were among the hardest in her life. Final exams were fast approaching for the college junior. Her doctors told her she had an ovarian cyst, and the risk of ectopic pregnancy was high.... Read More

    News From The Well
    scroll top