nos-trum. pronunciation: \nos'-trum\. noun. Etymology: Latin, neuter of noster our, ours.
1. a medicine of secret composition recommended by its preparer but usually without scientific proof of its effectiveness.
2. a usually questionable remedy or scheme.
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Friday, April 2, 2010

Exciting Genetic Link Between Autism and Digestive Disorders

 
A baffling disease, catastrophic for families, appears to share genetic risk with a broad group of stomach and intestinal disorders.

I missed this research, published last year in Pediatrics (March 2009).  I don't think it got a lot of press.

Unlike the hyped media reports we get that profess to show how kiwi fruit cures athlete's foot, or some such nonsense, this is a solid research result.

And it's important because autism is a puzzle that has led parents to unfounded concerns with external factors like vaccines.

The genetic literature is filled with correlations between seemingly unrelated things:  breast cancer and breast feeding, Parkinson's disease and coffee drinking--I call these Nature Notes, because they don't tell us anything about underlying mechanisms or causes.

This research is important for several reasons.

1. The genetic linkage to gastrointestinal orders is tied to a specific gene--a gene that's involved with brain development before and after birth.  Coincidentally the gene is involved in digestive system repair.
2.  With this opening into the genetic biochemistry, there's now an "internal" genetic marker to follow that could lead to a fuller understanding.
3.  Finding a genetic pre-disposition allows us to turn away from looking fruitlessly for "external" causes (like vaccines or mercury in the environment).
4.  The genetic link appears to apply to a defined sub-group of children with autism.  That is, there may be other sub-types of autism.

For Onion Peelers (skip if experimental science is not your thing):
A genetic variant is associated with autism spectrum disorder, the product of which is decreased in the temporal cortex of subjects with autism spectrum disorder. In 118 families with an offspring with autism and gastrointestinal conditions, the gene variant was significantly more frequent in individuals with autism and gastrointestinal conditions compared with their non-ASD siblings (P = .037), their parents (P = .029), and the previously published allele frequencies of unrelated controls14 (P = .002).

This will take several years to investigate, and new studies may bring other genetic influences to bear, but it's a very promising start to unravel the causes of a severe and disabling developmental problem.





 

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