Health

Genetic Mutation May Be Cause Of Some Autism Cases

BOSTON (WBZ) ― According to recent data, autism rates continue to climb and both parents and doctors are becoming increasingly frustrated trying to understand what causes it, but now there is a little ray of hope.

Local researchers have found at least one genetic mutation that may contribute to the development of autism -- at least in some children.

A major discovery in the lab could one day explain what causes autism in children like Tyler Bell.

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," explains Dr. Miller, "because everything is in a delicate balance, especially inside the human brain."

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 its a puzzle that has 100 pieces -- this is one piece," said Dr. Miller.

All this is very exciting for Tyler's parents. His dad 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 Tyler's father Peter.

"There is this search and need to find an answer for what made this happen," said Tyler's mom Elizabeth.

Science is now one step closer to that answer.

This is just a small step, but these scientists say they plan to perform more detailed genetic studies to better understand the biology behind autism, and hopefully reveal some potential ways to both diagnose and treat it.

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