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In many cases, all it takes is one mutated gene to orchestrate changes across a whole network of genes linked to autism, according to new results published in Nature by researchers at Boston Children's Hospital. The finding could explain why different mutations in one or several of the hundreds of genes linked to autism can lead to a similar condition.

And further building on this discovery, the investigators also found that one gene in particular, ZFX, is central to a well-known effect whereby females are relatively protected from severe autism symptoms even when they carry autism-associated mutations.

Senior study author Christopher Walsh, M.D., Ph.D., chief of the Division of Genetics and Genomics and investigator of the Howard Hughes Medical Institute, and lead authors Rebecca Andersen, Ph.D., and Maya Talukdar, Ph.D., along with colleagues, studied a number of genes linked to autism in a human cell model. They observed similar genetic patterns in most cases regardless of which gene was disrupted.

"The point is, if you down-regulate one autism gene, you down-regulate a whole bunch of them," said Andersen. "This 'transcriptomic convergence,' as we call it, gives us a way to understand how hundreds of different genes can cause similar phenotypes, a similar condition."

The new research suggests that many of the diverse genes that can cause autism when disrupted by rare mutations may actually act in concert.

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