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Gene Expression Profiles of Inflamed Bowel Biopsy Tissue in ASD Children Consistent with IBD

BowelGene Expression Profiles of Inflamed Bowel Biopsy Tissue in ASD Children Are Consistent with Inflammatory Bowel Disease

IMFAR Saturday, May 19, 2012
S. J. Walker, J. Fortunato, A. Krigsman

Gene Expression Profiles of Inflamed Bowel Biopsy Tissue in ASD Children Are Consistent with Inflammatory Bowel Disease

Saturday, May 19, 2012

Sheraton Hall (Sheraton Centre Toronto)

9:00 AM

S. J. Walker1, J. Fortunato2 and A. Krigsman3, (1)Wake Forest Institute for Regenerative Medicine, Winston-Salem, NC, (2)Wake Forest University Health Sciences, Winston Salem, NC, (3)Pediatric Gastroenterology Resources of New York, Far Rockaway, NY

Background: Chronic gastrointestinal (GI) symptoms in children with autism spectrum disorders (ASD) are common and not well understood. It is unclear if GI symptoms and intestinal mucosal inflammatory changes seen in children with ASD represent a variant of inflammatory bowel disease (IBD) versus non-specific colitis or “normal” mucosal cellular composition. Some studies have demonstrated histochemical and immunohistochemical features of the bowel mucosa, lamina propria and mucosal basement membrane which may be unique to children with ASD. The recent emergence of gene expression profiling as a valid methodology for distinguishing various forms of IBD potentially adds a further tool in defining the characteristics of ASD-associated intestinal inflammation.

Objectives: The goal of this study was to use a molecular approach to evaluate gene expression profiles in both histologically inflamed and non-inflamed ileocolonic biopsy specimens from ASD children with chronic GI symptoms and to compare them to gene expression profiles in ileocolonic tissue of neurotypical children with Crohn’s disease. Significant overlap of gene expression in these two groups would suggest that ASD-GI represents an IBD variant; differences in the ASD-GI gene expression profile would highlight the nature of its distinction from Crohn’s disease.

Methods: Study tissue consisted of ileocolonic biopsies from two groups: (1) children with an ASD undergoing ileocolonoscopy for active gastrointestinal symptoms and, (2) neurotypical children diagnosed with Crohn’s disease.  All tissue specimens were collected under appropriate IRB approval. For each individual (seven per group; fourteen in total) two biopsies were used: one from the terminal ileum with active inflammatory changes and one from the colon demonstrating normal mucosa (control).  Total RNA was isolated from the individual tissue biopsy specimens and used to query whole genome DNA microarrays. For each of the two groups, ASD-GI and CD, differential gene expression was determined by comparing the inflamed tissue within a group to the control tissues from the same group. Next, differential gene expression was compared between the ASD-GI and CD groups to evaluate similarities and differences.  

Results: In each group there were ~2000 transcripts differentially expressed between inflamed and control tissue. Within the 900 differentially expressed genes shared by both ASD-GI and CD, two highly relevant biological functional groups represented by these transcripts were gastrointestinal disease (including CD [p = 0.001] and IBD [p = 0.001]) and inflammatory response [p = 0.000003]. In the 912 differentially expressed transcripts unique to ASD-GI, the most significant biological functional group represented was gastrointestinal disease (including IBD and CD). In contrast, there were 1200 genes uniquely differentially expressed in CD and the primary biological functions represented by these transcripts were immune response [p = 6.6 x 10-14] and autoimmune disease [p = 4 x 10-7].    

Conclusions: These results demonstrate that ASD-GI presents a gene expression profile significantly overlapping with Crohn’s disease and consistent with the larger category of inflammatory bowel disease.




The name you are trying to recall is Ignaz Semmelweis

And yes, Semmelweis is looking at Wakefield et al, and saying "been there, done that."


Recently I watched this video--wish I could remember the name of the hero involved--but it was a doctor who came up with the idea that the doctor should wash his hands before delivering a baby. Doctors were having a terrible time with deaths of mothers and infants, but they were handling very sick people and corpses and then delivering the babies. Well, this man was so demonized for his crazy idea that he was run out of medicine and eventually ended up in an hospital for the insane where he died. What a ridiculous idea he had--can you imagine washing your hands in between handling a corpse and delivering a baby? Are we witnessing the same thing with autism and bowel disease, the gut/brain connection, and so on. Fortunately, research into these connections continues despite Deer, and the incomprehensibly incompetent and bought and sold for press.


I do of course appreciate Dr. Walker still working on this, and in the end will also be a hero!

Corinne; What that means is you have an autoimmune disease.
Just like I now have an autoimmune disease against my thyroid.

Both parents do pass on inforamtion of what ever their immune systems have come into contact with in the past to their children. So it must be that it is not just immunity to disease like measles/whooping cough that a child has immunity against right after birth and from breast milk; but autoimmunity diseases too.

It is also not just from the mother. The father also can pass on his immunity to his offspring.
Have the text book right up stairs in my library written 20 years ago and says so.


I have been hearing a lot over the past few years "Gene Expression".
Is it really new or is it a new way of expressing an old idea called turning on and off enzymes and coenzymes?

Corinne Ashbeck

OK< so I have a question- I have Crohns Disease, and 1 of my kids has an Autism spectrum Disorder. Do you think me having the disease has increased the odds of the ASD??

Jenny Allan

I'm afraid I'm finding it quite difficult to 'get my head round' this research abstract, but I can certainly understand the title:-
"Gene Expression Profiles of Inflamed Bowel Biopsy Tissue in ASD Children Are Consistent with Inflammatory Bowel Disease"

Since neurotypical children with diagnosed Crohn's disease were compared with ASD children with "active gastrointestinal symptoms", this research apparently confirms the, much disputed (by Brian Deer), 1998 Wakefield et al Lancet paper histopathology results. It also vindicates the statements made by co-authors histopathologists Professors Dhillon and Davies in rapid responses following Deer's BMJ articles:-
Wakefield’s “autistic enterocolitis” under the microscope
Pathology reports solve “new bowel disease” riddle

It is interesting to note that Dr Wakefield’s previous research at the Royal Free Hospital, London, was investigating a link between monovalent measles vaccine and Crohn’s disease. It’s all coming together now.

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