NEW YORK
As the number of children with autism has increased over the past couple of decades, so have efforts to find causes behind this neurodevelopmental disorder. Research published Wednesday provides new clues about genetic glitches that may contribute to the development of autism among children.
Ten years ago, little was known about the role genetics plays in autism. But improved technology has allowed scientists to delve deeply into DNA to search for answers.
"Ten years ago [it was like] we were looking through binoculars, then we were looking at autism through a microscope, and now it's like looking at it in high definition," says Andy Shih, vice president of scientific affairs for the advocacy group Autism Speaks, who was not involved in the research.
Since the first human genome was sequenced in the early 2000s, researchers have had the opportunity to search for genes that cause the disorder, which affects an estimated 1 in 88 children in the United States.
Researchers were originally searching for a single gene that would cause the disorder, but they now believe it's much more likely that there are multiple genetic mutations that put a child at risk. By studying specific areas of the DNA of families that have a child with autism, scientists have identified approximately 1,000 genes that may be involved.
A person's whole genome consists of about 3 billion nucleotides, or letters, of DNA. But only 1.5% of it - a portion called the "exome" - produces proteins. The exome also harbors 85% of disease-causing mutations, according to the National Institutes of Health.
Three studies published in the journal Nature this week analyzed the exomes of parents and children with autism and found spontaneous genetic mutations in the exome play a significant role in raising a child's risk of developing autism.
One study looked at 238 families with one child with autism and one child without autism.
Life with autism: In their own words
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UW, other genetic research reveal pieces of autism puzzle
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