Gastrointestinal Issues in Autism Might Originate in the Genes

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research team at Columbia University Medical Center (CUMC) found evidence in mice subjects that for some forms of autism, gastrointestinal problems could come from the same genetic changes that lead to the social and behavioral characteristics of the condition. The study results were published in the Journal of Clinical Investigation.

The Study

Children who have been diagnosed with autism spectrum disorder are four times more likely to suffer from gastrointestinal issues than other children. These gastrointestinal problems are commonly blamed on the tendency of children with autism to limit their diets to just a few specific foods.

Kara Gross Margolis, MD and the study’s lead author stated, “Gastrointestinal issues have been recognized as a common occurrence in people with autism since the condition was first described in the 1940s, but there was no indication that they were directly related.”

Recent research performed by Jeremy Veenstra-Vanderweele, MD and Randy Blakely PhD, has linked some cases of autism to genetic mutations that inhibit the activity of serotonin. Serotonin is a chemical which transmits signals from one neuron to another in the human brain. However, the brain only contains 5 percent of the body’s serotonin; the rest of it is at work in the GI system. Genetic mutations which affect serotonin’s activity will have ramifications in the gut as well as in the brain.
Dr. Margolis states, “Because serotonin plays an important role in the gastrointestinal system as well as the brain, we wanted to see if there was a direct relationship between these genes and GI development and function.”

The team investigated gastrointestinal development in a mouse model, created by collaborators at Vanderbilt, which carries a mutation found in some patients with autism. The mutation works by decreasing serotonin activity by increasing the activity of serotonin reuptake transporters, which pull serotonin back into the neurons after it has been released for neurotransmission.

In the latest study, Dr. Margolis and Dr. Gershon discovered the mice subjects had fewer neurons than what is normally found in the gut, a poorly maintained gut lining and slower movement of contents in the gut. The changes were evidenced in young mice and persisted throughout adulthood. Dr. Gershon said, “Basically, the gut goes slower and the mice were constipated, which is a common complaint in kids with autism.”


Only one previous study has looked at gastrointestinal disorders in children with mother’s who took selective serotonin reuptake inhibitors during pregnancy. This study discovered that such children are ten times more likely to have a gastrointestinal disorder than children from the general population.

Dr. Margolis said in closing, “We’re not advising anyone to stop taking SSRIs. Depression is not trivial in pregnancy and there are a lot of things to consider. As physicians, we want to make people aware of all the side effects of the drugs they take, so they can make better-informed decisions.”

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