Determining the cause of autism has proven difficult, in part because it is a complex group of developmental disorders rather than a single condition.
Now, an international team of researchers says it has discovered a “direct link” between autism and a known gene that plays a role in brain development.
A small study of 10 children – mostly boys – with autism showed that they had variants in the DDX53 gene, which is mainly expressed in the testis and brain. Researchers suggest the gene may explain why boys are more likely to be diagnosed with autism than girls.
“Noting DDX53 “As a key player, especially in men, we can better understand the biological mechanisms at play and improve diagnostic accuracy for individuals and their families,” said senior study author Stephen Scherer, chief research officer at The Hospital for Sick Children. in Canada.
Searches of autism research databases identified 26 other people who had rare DDX53 variants similar to the study participants.
About 5.4 million American adults have autism, which affects learning, behavior, communication and interaction with others.
Diagnoses have skyrocketed in recent years due to changes in screening practices and diagnostic criteria, increased awareness, and environmental factors.
Scherer said the identification of DDX53 as a “confirmed contributor to the [autism] underscores the complexity of autism and the need for comprehensive genetic analysis.”
DDX53 is located on the X chromosome. In the same location, the researchers found evidence that another gene, PTCHD1-AS, may be involved in autism.
They highlighted the case of a mother and son, both with autism, who had a gene deletion involving DDX53 and part of PTCHD1-AS.
Their findings were published Thursday in American Journal of Human Genetics.
Also Thursday in the same journal, researchers from the same team discovered 59 genetic variants on the X chromosome significantly associated with autism, including PTCHD1-ASÂ (where it is near DDX53).
Scherer said that “both studies provide even more evidence that complex neurobehavioral conditions like autism can sometimes have simple biological (genetic) bases.
The researchers are calling for further investigation of DDX53 and other genes. One problem is that commonly used mouse models lack a gene like DDX53, which can make developing therapies difficult.
There is no cure for autism, but symptoms can be improved with speech, occupational or physical therapy, behavioral interventions, or medications.
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