Jan 9, 2008 8:55 pm US/Eastern
Breakthrough Could Lead To Autism Insight
MIAMI (CBS4) ―
Scientists have made a possible breakthrough that could help determine the cause of autism.
Researchers have found a gene mutation in children with the disorder and are now trying to figure out what causes it.
Geneticist David Miller from Boston Children's Hospital says the discovery lies deep in the human genome. We all have 23 pairs of chromosomes. But in a very small number of autistic kids scientists found a mutation. In one particular chromosome these children were either missing DNA material or had too much of it.
"It would be like a recipe where if you added twice as much salt or half as much salt and it changes how the recipe turns out, because everything is in a delicate balance, especially inside the human brain," explained Dr. Miller.
But exactly how this mutation may lead to autism is still unknown. Scientists still have to figure out what causes it and find out if these abnormalities are present in all autistic children or just a select few.
In the near future scientists hope to use this technology to identify autistic kids at an earlier age. "So if it's a puzzle that has 100 pieces, this is one piece," said Dr. Miller.
The discovery is very exciting for the parents of Tyler Bell, a child with autism. His father also works for Autism Speaks which aided in the research.
"There's a palpable sense within the community that something significant is going to break," said Peter Bell, Tyler's father.
His mother agrees. "There is this search and need to find an answer for what this happen," said Elizabeth Bell.
Science is now one step closer to that answer.
The discovery, published in the New England Journal of Medicine.
(© MMIX, CBS Broadcasting Inc. All Rights Reserved.)
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