October 25, 2016

Research into two unrelated genetic mutations in cells have shown a link between a specific cancer gene and Autism, say the New York Times.

This is based on research conducted by the University of Washington into mutates cancer gene, called PTEN. Around 10% of people with the mutation, which causes cancers of the breast, colon, thyroid and other organs, also have Autism. That is much higher than the average of children diagnosed with Autistic traits who do not have the gene.

As with nearly all genetic disorders, not everyone with the mutations develops autism or cancer, or other disorders associated with the genes, like epilepsy, enlarged brains and benign brain tumors.

The scientists at the University of Washington have been successful in genetically engineering mice who have Autistic traits by looking at the genetic mutation in the cancer gene, and this research has led to a clinical trial of drugs used to suppress the gene being used to suppress symptoms.

Speaking to the New York times, Steven McCarroll, a geneticist at Harvard, notes that autistic children with the cancer gene mutation have “a brain that is failing in many ways.” Autism in these children could be a manifestation of a general brain malfunction, he said, adding,

“The fact that autism is one of the many neurological problems that arise in these patients does not necessarily tell us anything penetrating about the social and language deficits that are specific to autism.”

Writing on behalf of Forbes Magazine, contributor Emily Willingham had this to say:

“Gina Kolata, in this story for the New York Times, does not focus on these features of a syndrome that can include autism and traces to a gene, PTEN. PTEN contains the code for a protein that’s responsible for keeping cells from dividing out of control. Because that’s its day job, it’s known as a tumor suppressor gene. Mutations in the code can result in a protein that doesn’t work. Obviously, if something that suppresses tumors doesn’t work, the result can be… tumors.”

The news of a link itself is not new, Virginia Hughes writing on behalf of the Simons Foundation Research initiative wrote, and expressed an opinion on the link almost five years ago to the day, and there are many published research articles freely available that have explored a possible link.

Video from New York Times

About the author 

Shân Ellis

Shân Ellis, is a qualified journalist with five years experience of writing features, blogging and working on a regional newspaper. Prior to working as a journalist, she was a ghost writer for top publishers and was closely involved in the editing and development of book series. Shân has a degree in the sciences, and 5 A levels. She lives in the UK and is the mother of an autistic child.

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