Researchers have turned the genetics of autism upside down

A recent study found that autistic siblings inherit more genetic material from their fathers than from their mothers.

researchers from Cold Spring Harbor Laboratory (CSHL) They recently revised the commonly believed genetic assumption. autism spectrum disorder (ASD).

Scientists have long believed that siblings diagnosed with ASD tend to inherit more genetic traits from their mothers than from their fathers. However, CSHL associate professors Ivan Yosifov and Michael Wigler have demonstrated that in many cases it may be the father who has the more significant genetic contribution.

Autism spectrum disorders include various neurological and developmental conditions. They can affect how a person communicates, socializes, learns and behaves. ASD can also manifest as repetitive behaviors and restricted interests. In the United States, about 1 in 36 children are affected.

“We have high-functioning children who have been diagnosed with autism,” says Yosifov. “They, like most of us, have some minor problems in social interaction, but lead fully productive lives. There are kids who can’t learn to speak, and they definitely have a difficult life.”

Over the decades, Cold Spring Harbor Laboratory scientists and collaborators have invested millions of dollars in understanding the genetic causes of autism spectrum disorders (ASD). Their efforts have yielded useful insights for diagnosticians, therapists, and educators, and helped change the way people think about this common neurodevelopmental disorder. Now they’ve taken their research one step further, once again defying popular assumptions about autism and its genetic origins.Credit: Cold Spring Harbor Laboratory

Over the past two decades, CSHL scientists have led multi-million dollar efforts to uncover the genetic origins of autism. They found thousands of genes that, if damaged, could cause children to be born with ASD. However, their study could not explain all cases of ASD. So Josifov and Wigler set about looking for lost sources.

They analyzed the genomes of over 6,000 volunteer families. They found that in families with two or more children with ASD, siblings shared more of their father’s genome. On the other hand, in families with only one sibling with ASD, the children shared less of their father’s genome. While the findings reveal new potential causes of ASD, they also raise provocative questions. Do other diseases follow the same genetic rules?

No one knows how the father’s genome will affect children with ASD. But Mr. Yosifov has some interesting ideas. He suspects that some fathers may carry protective mutations that are not inherited. Alternatively, the father may inherit a mutation that triggers the mother’s immune system to attack the developing embryo. Both theories offer hope for parents of children with ASD and other neurological disorders such as schizophrenia.

“Our future research is exciting,” says Yosifov. “If one or two of these theories prove to be true, it could open up a range of treatment strategies that could affect significantly more families in the future.”

Additionally, this research provides a useful tool for educators and therapists. This may allow for earlier diagnosis and improve our overall understanding of autism.

Reference: “Parental Genome Sharing by Concordant or Discordant Siblings for Autism,” Mathew Wroten, Seungtai Yoon, Peter Andrews, Boris Yamrom, Michael Ronemus, Andreas Buja, Abba M. Krieger, Dan Levy, Kenny Ye , Michael Wigler, Ivan Iossifov, May 8, 2023 cell genomics.
DOI: 10.1016/j.xgen.2023.100319

This study was funded by the Simons Center for Quantitative Biology, the Simons Foundation Autism Research Initiative, the Center for Common Disease Genomics, the National Human Genome Institute, and the National Heart, Lung, and Blood Institute.

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