Mutations of the gene known as "PTEN" have long been tied to the development of many cancers. But a new study finds it may also be linked to the development of a particular form of autism, too.
"This gene is not only important for all the cells in the body, but it's particularly important for how brain cells grow and develop and autism is a developmental disorder. And so, if the brain cells aren't growing and connecting properly to one another, then you're going to have brain problems and those brain problems, in this case, manifest in autism symptoms," explained Dr. Tom Frazier, who studies autism at Cleveland Clinic Children's and co-authored this study.
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A team of researchers studied the link between a mutated PTEN gene and autism.
They used MRI and cognitive tests to understand exactly how mutations in the PTEN gene changed brain structure and function.
Children with PTEN autism have problems remembering and processing information quickly and these cognitive problems were linked to abnormalities in brain connections. Frazier says discovering the link between PTEN gene mutations, brain problems and autism is significant because it may not only help to identify kids with PTEN autism earlier, but it may also change the way they are being treated.
"We think that by studying these kids with PTEN autism that ultimately we're going to be able to identify medicines that are going to make a big difference in these kids' lives," said Frazier.
Complete findings for the study can be found in the journal Molecular Psychiatry.