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By: Ilana Siyance
The cause of Autism has long eluded scientists, perhaps because it is not a single condition but rather a complex group of developmental disorders. As reported by the NY Post, an international team of researchers has now discovered a “direct link” between autism and a gene known for its function in brain development. A small study of 10 children — mostly boys — with autism revealed that the participants had variants in the DDX53 gene—which is primarily expressed in the testis and brain.
The researchers say that this gene might clarify why boys are nearly four times more likely to be diagnosed with autism than girls. “By pinpointing DDX53 as a key player, particularly in males, we can better understand the biological mechanisms at play and improve diagnostic accuracy for individuals and their families,” said the study’s senior author Stephen Scherer, chief of research at The Hospital for Sick Children in Canada. Searches into autism research databases showed that at least 26 more people who had the rare DDX53 variants, similar to the study participants, were autistic.
Autism is a condition related to brain development impacting a person’s learning, behavior, perception, communication and social interaction with others. As the term “spectrum” in autism spectrum disorder indications, the condition refers to a wide range of symptoms and severity. Autism spectrum disorder includes conditions that were previously considered separate — autism, Asperger’s syndrome, childhood disintegrative disorder and an unspecified form of pervasive developmental disorder. In the USA, roughly 5.4 million adults are diagnoses with autism.
The condition affects 1% of the world’s population—or about 75 million people around the globe. Since 2000, the prevalence of autism has increased about 178%. This skyrocketing in recent years, is thought to probably be due to more precise screening practices, better diagnostic criteria, and increased awareness. There are thought to be may causes and risk factors, including genetics, family history, environmental factors and possibly age of the parents at conception.
According to the information provided in The Post report, Scherer said that identifying DDX53 as a “confirmed contributor to [autism] underscores the complexity of autism and the need for comprehensive genetic analysis.” DDX53 is a gene located on the X chromosome. Also, the researchers discovered evidence that another gene, PTCHD1-AS, may too be involved in autism.
The study featured a case of a mother and boy, both with autism, who had a missing gene, involving DDX53 and parts of PTCHD1-AS. The research was published on Thursday in the American Journal of Human Genetics. On Thursday, the same Journal also reported that researchers from the same team found 59 genetic variants on the X chromosome which show significant association with autism, including PTCHD1-AS (when it’s near DDX53). Scherer said that “both studies provide even more evidence that complex neurobehavioral conditions like autism can sometimes have simple biologic (genetic) underpinnings.”
The research is far from complete, but this will help scientists to come closer to the source. The researchers are calling for further investigation into DDX53 and other genes. One problem in this is that usually mouse models are used for this type of study, and mice don’t have a gene like DDX53, which may make it difficult to develop remedies, the Post reported. For now, there is still no cure for autism, but symptoms can be moderately improved with early intervention including speech, occupational or physical therapy, behavioral interventions or sometimes certain medications.
