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Genetics: Gene expression altered in autism gut

by  /  11 June 2013

Gene profile: The gene expression pattern in autism gut cells (pink) is distinct from that in controls (green) and gut disorders (blue, yellow).

Gut cells from children with autism who have gastrointestinal (GI) problems have gene expression patterns that suggest a unique immune disorder, according to a study published 8 March in PLoS One1.

Autism is frequently accompanied by GI problems such as stomach pain, constipation or diarrhea. But there is conflicting evidence over whether these are merely side effects of other features of the disorder, such as picky eating.

Certain chronic GI conditions are caused by a hyperactive immune system, which has also been linked to autism, suggesting a possible connection between the GI symptoms in autism and immune dysfunction. 

The new study looked at the relationship between gut symptoms in autism and two inflammatory GI disorders: Crohn’s disease and ulcerative colitis. Studies have shown that cells taken from the intestines of people with either of these disorders have distinct gene expression patterns2.

The researchers collected cells from the large and small intestines of 25 people with autism who have GI symptoms, 8 people with Crohn’s disease, 5 people with ulcerative colitis and 15 controls.

Overall gene expression patterns in the autism cells are distinct from those in controls, the researchers found. They are more similar to cells from people with one of the two inflammatory disorders, but are not a perfect match with either.

For example, small intestine cells from people with autism share 1,381 altered genes with Crohn’s disease and 1,071 with ulcerative colitis; 587 genes overlap with both disorders.

However, as many as 1,231 genes from cells in the small intestine and 1,011 from cells in the large intestine are abnormally expressed only in people with autism. The results suggest that people with autism may have a unique, immune-related GI disorder, the researchers say.  


1: Walker S.J. et al. PLoS One 8, e58058 (2013) PubMed

2: von Stein P. et al. Gastroenterology 134, 1869-1881 (2008) PubMed

  • Payman

    This is the research that needs more attention and more research since for once…research is done on symptomes expressed by patients suffering by autism.

    Picky eater is a first impression. But for those who have observed autism in first class seat you will notice that the picky feeding is to compensate a distinct craving or a distinct feeling or compensating interior feelings which outsiders are totally blind to it.

  • jwright

    Thank you for your comment. You might also be interested in this article, which describes how unusual sensations might explain picky-eating in autism.

  • Katie Wright

    I am thrilled that Simons is reporting on this work. It is really a labor of love for the families of affected kids and the researchers Krigsman and Walker, who are also helping to pay for the costs of this study. The pain my son endured due to his ASD/ GI disease was literally ruining his life. For the first time Walker et al provide clear biomarkers for the ASD/ regressive GI subtype. This is hugely ground breaking work that will speed diagnoses and treatment of this condition.
    It is so important that the autism research community balances academic research with the here and now needs of those suffering with moderate to severe autism. It has been so difficult to find help and and so little research $ has been invested in this area. Hopefully that will change.

    Picky eating is just a MILD symptom. More serious GI disease manifests in bloated guts, self injurious behavior (due to the pain of chronic constipation or ulceration) and chronic sleeplessness. It is very hard to sleep when one is in pain. The pictures of the GI cells in this study are incredible. One can now easily see the diseases process and how it is different from Crohns and celiac. This disease is more painful than celiac. Dietary interventions are essential for these children.

    Martha Herbert, Julie Buckley, Judy Converse and Julie Matthews have done incredibly innovative work in the are of dietary interventions


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