Story at a glance
- As of 2017, approximately 5.4 million American adults have an autism spectrum disorder.
- Results from the large study may help spur future treatments for the condition.
- Researchers also hope the findings will spur genetic testing to identify those at risk.
An analysis of more than 150,000 people, 20,000 of whom have autism, revealed more than 250 genes that have strong links to the condition, marking the largest and most comprehensive study of its kind to date. The findings were published in the journal Nature Genetics.
Findings open up the possibility for a precise medicine approach to autism, a personalized care process that is gaining popularity in other disease states where genetic mutations increase certain risks.
“Some individuals with autism spectrum disorder carry functional mutations that are rarely seen in the general population,” researchers explained. To better understand genes disrupted by these variants, researchers reviewed data from participants of the Autism Sequencing Consortium, the Simons Foundation Powering Autism Research initiative, and three other consortia.
The authors hope the findings will help advance future insights about the molecular roots of brain development and neurodiversity, while enabling future research into the biology of the condition.
Previous research has already shown that mutated genes contribute to autism. “However, in this unprecedented study, we were able to bring together multiple types of mutations in a wide variety of samples to provide a much richer picture of the genes and genetic architecture involved in autism and other neurological disorders,” said co-author Joseph Joseph. D. Buxbaum, of the Seaver Autism Center for Research and Treatment at Mount Sinai, in a statement.
The results may also provide potential targets for the treatment of autism.
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In the United States, the Centers for Disease Control and Prevention (CDC) estimates that as of 2017, about 2.2 percent of adults are currently living with an autism spectrum disorder, or about 5.4 million individuals.
Several analyzes were performed as part of the study, one of which showed that autism-related genes were more active in more mature neurons, while genes associated with developmental delay were more active in early neuronal development. An additional analysis showed that genes strongly linked to autism are also likely to be associated with genes that increase the risk of schizophrenia, researchers said, underscoring the shared genetic risk factors between autism and other psychiatric disorders.
In addition to the large-scale data collection used in the study, researchers were also able to begin to understand where, when and how certain genes express effects during neurodevelopment, added co-author Michael Talkowski, of the Center for Genomic Medicine at Massachusetts General Hospital. up. .
Based on the findings, genetic testing is warranted, the authors say, to identify those at risk and drive therapeutic development.
“The more we can advance therapies based on the targets identified in these genetic findings, the more people we can help, which could have a significant impact in tackling autism and developmental delay globally,” Buxbaum said.
Published on Aug 19, 2022
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