Autism Has 'Eerie' Connection to Cancer Gene

Researchers see hope for autism treatment

By Matt Cantor,  Newser Staff

Posted Aug 12, 2013 7:10 AM CDT | Updated Aug 12, 2013 7:39 AM CDT

(Newser) – "It's eerie," says a scientist of a newly discovered link between autism and cancer. What researchers found: A gene known as PTEN can cause a number of different cancers, including breast, thyroid, and colon; and it turns out that some 10% of kids with mutations in the gene have autism, the New York Times reports. That's about 10 times the typical rate of autism occurrence. Autism also occurs in about half of kids with a genetic disorder known as tuberous sclerosis, which boosts brain and kidney cancer risk. Only an incredibly small proportion of kids with autism have these gene mutations, however (Forbes reports that about 1% of people with autism have the PTEN mutation).

But the discovery has allowed researchers to alter the genetics of mice to mimic autism symptoms (the Times notes no animals get autism "naturally"). That enabled them to test a drug that fights tuberous sclerosis-induced tumors on the mice. After observing promising results there, a clinical trial involving a similar drug and children who have autism and the tuberous sclerosis mutation has begun. The researchers hope the drug, called everolimus, will boost the children's mental abilities; the study is due to be finished by December of next year. (In other fascinating related studies: The placenta may hold autism clues.)

A technician loads patient samples into a machine for testing at Myriad Genetics.   (AP Photo/Douglas C. Pizac)
This undated image provided by the U.S. National Cancer Institute shows the 46 human chromosomes, where DNA resides and does its work.   (AP Photo/National Cancer Institute)
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