Autism Therapy: mutation

definition of mutation: not yet defined.

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Proc Natl Acad Sci U S A. (epub), by Campbell, DB, Sutcliffe JS, Ebert PJ, Militerni R., Bravaccio C., Trillo S., Elia M., Schneider C., Melmed R., Sacco R., et al., published in 2006, summarized Nov 14, 2006

This article describes a study showing that many children with autism have a mutation in a gene involved in brain development, immune system function, and digestion.

The authors describe how previous research into the genetics of autism has focused on genes involved only in brain function. In this study, they take a different approach, and focus on a gene that is also involved in the immune system and digestion. Previous studies have shown that many children with autism seem to have problems in their immune system and digestive system. After analyzing the genes of 1,231 individuals with autism, they found that this gene was significantly more likely to be altered than in the general population. Because this gene is involved in brain development as well as the function of the immune and digestive systems, the result suggests that more than one system may be affected in autism.


Researchers at Vanderbilt University identified a gene mutation (MET) that they say more than doubles the risk of developing autism. They caution that while diagnosing one gene mutation is not a sufficient diagnostic tool; they reiterate studies that have shown that if there is early diagnosis, then the outcome can be improved through behavoiral therapy.

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A Vanderbilt Kennedy Center for Research on Human Development study reports that a single gene mutation doubles a child's susceptibility to autism. There are multiple theories on why seemingly normal children seem to lose abilities they possessed and withdraw. This research suggests that the MET gene, with other vulnerable genes, and environment, may precipitate the onset of autism. Many parents have reported that their children suffered from gastrointestinal and immune disorders; it is not clear whether this is linked with autism. However, investigation into the MET gene may provide some light. The MET gene and MET receptor are important for brain growth, brain maturation, immune function and digestive repair. Read more .


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