Autism Spectrum Insights: Scientists Discover Roles Of Dozens Of Contributing Genes

Autism, also called Autism Spectrum Disorder (ASD), is a complex, lifelong condition that involves communication and behavior problems. As a spectrum disorder, it affects people in various ways and degrees. It’s common with children at age 2 or 3.

Multiple Gene Mutations Associated With Autism

Two recent studies delving into the genetic basis of autism have associated mutations with hundreds of genes to the disease. Many teams of researchers worked on the studies, both published in the journal Nature, and discovered that approximately 60 of the genes noted “high confidence,” indicating a 90% chance that mutations within those genes result in the risk for autism.

Both studies reveal that through genomic sequencing, most of these mutations are de novo, implying that parents lack the gene mutation. Still, it occurs spontaneously in the sperm or egg before conceiving a child.

• Advances in Genomic Research: People previously thought autism was genetic. Due to a lack of extensive studies and advanced genomic sequencing, an agreement about the specific genes involved was hard to grasp. Nevertheless, in the past few years, scientists have examined the genetic mutations in many people with autism and detected genes that can make a child develop the disorder. In the two recent studies, scientists could expand their work and examine thousands of people.

• De Novo Mutations in Autism: In one of the studies, many institutions used data from the Simons Simplex Collection (SSC), consisting of DNA samples from 3,000 families, and each family had someone with autism. The researchers compared the gene sequences of autistic people to their unaffected family members. After evaluation, they approximated that de novo mutations led to autism in at least 27% of families, with only one member experiencing the disorder.

• Autism Sequencing Consortium: Researchers who conducted another study at 37 different institutions as part of the Autism Sequencing Consortium examined 14,000 DNA samples of parents with affected children. The findings reveal 33 genes that can increase the risk for autism if there is a mutation.

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Understanding Autism’s Biological Basis

Despite hundreds or even thousands of genes that may result in a child’s risk of developing autism, the researchers in both studies discovered that the mutations mainly affect a smaller number of biological functions, such as nerve-cell communication or proteins responsible for inherited disability. 

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Future Implications For Autism Research

Dr. Matthew State, chair of the psychiatry department at the University of California, San Francisco, and a co-leader of the SSC study, including a senior participant in the other research, states, “In my view, the real importance of these studies is not diagnosis, and it’s not figuring out exactly what percentage of people have de novo mutations, it’s about laying the foundation to transform the understanding of the biological mechanisms of autism.”

State doubt that the findings will imply that families will later get their genomes sequenced to detect several potential mutations. Instead, they could set the foundation for learning how autism develops and what possible treatments, or even drugs, could address it.

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Conclusion

A recent study shows how complex the genetic complexity of autism spectrum disorder (ASD) is, discovering roughly 60 genes with a high probability of resulting in its risk.

These gene mutations usually occur spontaneously just before conception. Advances in genomic sequencing and collaborative studies have explained ASD’s genetic basis. De novo mutations revealed 33 genes associated with autism risk.

Although several genes may cause autism, they converge on fewer biological functions, like nerve-cell communication or proteins responsible for inherited disability. This research details ASD’s biological mechanisms, giving hope for future treatments and interventions.

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