Hundreds of genes have been linked to autism. What scientists haven’t understood is what they have in common.
But now they may be closer to an answer.
A new study suggests that many genes linked to autism are connected through a shared biological network, which could help explain why autism is diagnosed much more often in men than in women.
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The research, published in the journal Naturefocused on autism spectrum disorder (ASD), a neurodevelopmental condition characterized by differences in social communication as well as restricted or repetitive behaviors.
Although autism is highly heritable, researchers have identified hundreds of genes that may increase the risk of developing the disorder, leaving a long-standing question: How can so many different genetic changes result in similar outcomes?
A team led by researchers at Boston Children’s Hospital has found that many of these seemingly unrelated genes can converge on the same genetic pathways.
By studying genes associated with autism in human cell models, researchers found that disrupting a single autism-related gene often triggered changes in many others.
Lead author Rebecca Andersen, Ph.D., described the phenomenon as “transcriptomic convergence,” referring to the tendency of different autism-related mutations to produce similar patterns of genetic activity.
“When I started this project, I thought that by disrupting several genes associated with autism one by one, we would be able to group subsets of them together based on how similar or different their effects were,” Andersen said. News week.
Instead, almost all of the genetic disruptions tested produced similar effects on overall gene expression, particularly affecting other autism-related genes.
“This suggests that the genes associated with autism are closely interconnected with each other, so that disrupting one of them can have ripple effects that disrupt many others, and this begins to explain how so many different genes can play a role in autism,” Andersen said.
Different mutations, similar characteristics
Shebna N. Osanmoh, a certified psychiatric mental health nurse practitioner at Savant Care who was not involved in the study, said the findings could help explain why people with different genetic mutations may share similar autistic characteristics.
“However, this does not tell us how (a) child may progress or what type of interventions they may need,” Osanmoh said. News week.
The study also explored another enduring mystery in autism research: the so-called “female protective effect.”
Autism is diagnosed about four to five times more frequently in men than in women, leading scientists to suspect that there may be biological factors that help protect women from developing the condition, even when they carry genetic variants associated with autism.
The researchers identified a gene called ZFX as a potential key player. Located on the X chromosome, ZFX belongs to a small group of genes that escape a process called X chromosome inactivation.
While most genes on one of a woman’s two X chromosomes are effectively turned off, escape genes such as ZFX remain active on both chromosomes. As a result, females generally produce higher levels of ZFX protein than males.
“This makes ZFX a particularly strong candidate for contributing to the female protective effect, but more work remains to fully understand the role of ZFX,” Andersen said. “Understanding how ZFX and other genes differ between males and females will not only give us important insights into the protective effect of females in autism, but it will also help illuminate some of the fundamental principles essential to building the human brain.”
Osanmoh said the findings should not change the way families approach the needs of a child with autism.
“It’s great to know the biology behind it, but they should continue to receive interventions based on how they communicate and go about their daily lives,” he said.
Reference
Andersen, R.E., Talukdar, M., Sakamoto, T. et al. Transcriptomic convergence and female protective effect in autism. Nature (2026). https://doi.org/10.1038/s41586-026-11236-6
Contact Newsweek editors on this story: Kara Dolman and Tony Phillips.
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