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A new study on mice, which relies on the findings of an unprecedented human study, suggests that gene mutations found both in the brain and in the intestine could to be the reason why so many people with autism suffer from intestinal problems.
The study, published in the journal Research on autism, confirms the existence of a suspicion of link between the nervous system and the intestines and the brain in autism and suggests a new potential target for treatments likely to alleviate behavior problems commonly encountered in the disorder.
Associate Professor, Chief Researcher Elisa Hill-Yardin of the Australian University of the Royal Melbourne Institute of Technology (RMIT), said autism researchers have long been working on the brain and have begun only recently to look into the intestine.
"We know that the brain and intestines share many of the same neurons and we have now confirmed for the first time that they also share autism-related genetic mutations," Hill-Yardin said. "Almost 90% of people with autism suffer from intestinal problems, which can have a significant impact on the daily lives of their loved ones and their families."
"Our findings suggest that these gastrointestinal problems could stem from the same mutations in the genes responsible for the brain and behavioral problems of autism. It's a whole new way of thinking – for clinicians, families and researchers – and it broadens our horizons in seeking treatments to improve the quality of life of people with autism. "
The study reveals that a genetic mutation that affects neuronal communication in the brain – and which has been identified for the first time as a cause of autism – also causes intestinal dysfunction.
This new research is based on unpublished clinical work from a landmark study conducted in 2003 on two autistic brothers, led by Swedish researchers and a French geneticist. The 2003 study was the first to identify a specific genetic mutation as a cause of neurodevelopmental disorder. The study showed that this gene mutation affected the communication by modifying the "velcro" between neurons that kept them in close contact.
Researchers from RMIT's Ax-Gut-Brain Axis team have relied on this clinical work with a series of studies on the function and structure of the intestine in mice with the same mutation. "Velcro" gene.
They discovered that this mutation affects:
- intestinal contractions;
- the number of neurons in the small intestine;
- the rate at which food moves in the small intestine;
- responses to a critical neurotransmitter important in autism (well known in the brain but not previously identified to play a major role in the intestine).
Associate Professor Ashley Franks (University of La Trobe) also found significant differences in intestinal microbes in mice with and without the mutation, even though both groups were conserved in identical environments.
Although this specific "velcro" mutation is rare, it is one of more than 150 autism-related genetic mutations that alter neuronal connections, Hill-Yardin said. "The link we confirmed suggests a broader mechanism, indicating that mutations that affect connections between neurons could be at the root of intestinal problems in many patients."
Source: RMIT University
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