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They may seem completely different, but research studies conducted over the last few decades have found some very real connections between cancer and autism. The underlying connections are genetic. There seem to be gene mutations that put people at risk for cancer and that also are related to or even cause autism in children. This could have important implications for people with mesothelioma and other types of cancers, but also for children struggling with autism. Treatments for one condition may be applicable to the other, and better genetic information will help researchers understand what causes cancer or autism in some people and not others.

What is Autism?

Autism spectrum disorder is a range of conditions that vary in severity and are considered developmental disorders. Some of the common symptoms of autism are social problems, like difficulty communicating with others and an inability to interact appropriately. A child with autism may also exhibit repetitive behaviors, be sensitive to sounds or light, and have limited interests and activity level. Some children are only mildly debilitated, while others are severely impaired by autism. Many more exist at other points on the spectrum with symptoms that range between mild and debilitating.

Autism is still not well understood, but it is thought to be related to some kind of disruption of brain development. Because it is not well understood it is also not easy to treat. A combination of educational, behavioral, and psychological interventions and therapies, especially early on, can make a big difference. Some children also take medications to treat symptoms like irritability or hyperactivity.

PTEN – A Gene that Controls Cell Growth

One of the first discoveries that connected cancer and autism was the fact that ten percent of children diagnosed with autism have a mutation in a gene called PTEN. This particular gene codes the instructions for making an enzyme that is used in almost all parts of the body. The enzyme manages cell growth and acts as a tumor suppressor. In other words, it prevents cells from growing out of control, as they do in cancerous tumors. It does this through several processes, including keeping the genes in a cell stable.

When PTEN is altered or mutated, it can cause a number of health conditions, including several types of cancer. The cancers that are related to PTEN mutations are not inherited cancers, so a child may be born with this mutation and end up with a type of cancer even if he has no family history of it. PTEN mutations are the most common of genetic mutations associated with cancer. A PTEN mutation may put a person at an increased risk for breast cancer, lung cancer, prostate cancer, endometrial cancer, and head and neck squamous cell carcinoma.

PTEN may also be important in mesothelioma. Mutations in PTEN have been found to be associated with late-stage aggressive cancers like mesothelioma. Researchers have also found that among patients with mesothelioma, those who still have a functioning PTEN gene are more likely to survive longer.

Autism and PTEN

Several studies have found that about ten percent of children with autism, or with autism-like symptoms, also have a PTEN mutation. The connection was first made when a cancer researcher noticed that parents with a PTEN mutation had more kids with autism than in the general population. Some experts suggest that the mutation causes autism, while others say that the autism could just be a side effect or co-occurrence of an overall brain disorder caused by the mutation. Why only ten percent of people with autism have the mutation is not known.

These children not only must live with the challenges of autism, but also may have an increased risk of developing cancer at some point because of the genetic mutation. So far there is no evidence that people with autism actually develop cancer more than people without autism, but with the underlying mutation, it may be a lifelong concern.

Treating Autism with Cancer Drugs

One of the most promising benefits of the discovery of the PTEN-autism connection is that drugs used to treat cancers in people with a PTEN mutation may also help children with autism. Early studies with mice have shown that this type of treatment may actually work. Researchers altered the PTEN gene in mice, which then expressed symptoms of autism. They were then given drugs used to treat certain types of PTEN-based cancers and the symptoms disappeared. Studies using the drugs for children with autism are currently in progress.

Beyond PTEN

PTEN is a commonly implicated mutation in many cases of cancer, but the ongoing research into autism and cancer has uncovered many more crossover genes. To date, researchers have found 43 genes that are connected to both autism and cancer, but they expect to find even more. At least 17 of those on the current list are strongly related to both autism and cancer and hold potential for helping researchers better understand both diseases and to develop better treatments.

A common thread in all these connections is cell growth. Cancer is obviously linked to cell growth, specifically to cell growth that has gotten out of control and results in tumors. Autism is less well understood, but it may be related to an overgrowth of nerve cells in the brain or unusual wiring of nerve fibers in the brain, which could be related to the genetic mutations.

Hope for Cancer and Mesothelioma Patients

While cancer drugs are now being used to try to treat children struggling with autism, there is also hope for new treatments for people with mesothelioma and other types of cancer. The connection goes both ways, so drugs that are developed to help treat autism may also help people with cancer. Even more of a possibility is that treatments will be developed to target the underlying genetic problems, like the mutation in PTEN, and that these treatments will benefit two groups of people: children with autism and people living with cancer.

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