Mutated Genes Associated with ASD

Researchers from the Seaver Autism Center at Icahn School of Medicine at Mount Sinai reported in the journal Neuron that hundreds of mutated genes are associated with autism spectrum disorder (ASD),.

The scientists indicated that a proficiency called HTS (high-throughput sequencing) has revealed many new genes that are associated with ASD. they believe that genomic technology has totally altered gene detection and the understanding of autism.

With HTS, researchers can acquire the cycle of all 22,000 human genes and the whole human genome in just one experiment, allowing them to quickly survey a person’s genetic makeup. Because of this new ability of doing this in one shot, it makes it much easier for genetic testing and gene discovery.

Joseph D. Buxbaum, PhD., said that “These new discoveries using HTS confirm that the genetic origins of autism are far more complex than previously believed.” furthermore, he indicated that, “HTS shows us that there are not just a few mutations, but potentially hundreds of mutations that are linked to autism. By identifying the many genetic roots of this disorder, we can better understand its biology, which in turn will allow us to develop more tailored treatments for individuals. It is a transformative time for genetic research in autism.”

Because of HTS, the subsequent breakthroughs have been achieved:

  • People with an ASD do not share related gene mutations. Buxbaum outlines some “staggering degree of genetic heterogeneity in autism”.
  • An increasing number of precise genes and chromosomal intervals that confer risk have been identified
  • How mutations that developed in the sperm or ovaries of the parents were passed onto children, and their important emerging role in autism

Since strength in numbers helps, some of the discoveries were achieved quickly for the reason that this Consortium consists of 25 groups around the world. By collaborating and sharing their information info they fuse it together prior to publishing. Their initial studies covered 1,000 families. The scientists calculate that there must be several hundred undiscovered genes which are related to autism. This unexpected escalation in discoveries of autism-related genes discovered by HTS symbolizes a new phenomena for this type of expertise.

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