Saturday, December 29, 2007

Heuristic of Complexity in ASD Biochemistry

This item was emailed to this blog.-AR

For all of those trying to wrap their brain around the complexities of regression and the mix of environmental and genetic influences, I hope this heuristic helps. Its extremely complicated with various genes and exposures implicated in various individual children.

Hopefully KOMU can send this to Dr. Judith Miles and any other UM-Columbia, UM-KC, Washington University and Saint Louis University researchers as well as State Legislators trying to conceptualize the issues on the biochemical and exposure side of things. Remember, in terms of gene-environment interactions, one person's safe dose can be another person's toxin due to a genetic polymorphism that leaves them vulnerable where others aren't.

Classic examples of this in pediatrics include PKU, maple syrup urine disease and these have been successfully identified in neonatal screening tests of metabolism. This type of approach is needed to improve the collective function of those at risk for autism. Maybe these great "Show Me" state universities can be the first to define a screening protocol for newborns who have slow detoxification kinetics so that their environmental risks can be better quantified at birth for the risk of regressive autism.

TEXT PROMPTING THIS POST:Severely dysfunctional children can be helped and part of what makes the clinical science of helping these children so difficult is the genetic and environmental heterogeneity of the population. In addition, looking at the work of Dr. Jill James would indicate that the approach requires nutraceutical rather than pharmaceutical approach as relates to the enzyme pathways in sulfation and methylation that are affected. The neurological side of things may be helped by some pharmaceuticals but much of the underlying problems with detoxification need bottleneck hurdles (neutraceuticals) rather than cascade or pathway blockers (pharmaceuticals). If big drug companies could patent and protect those approaches it would help get more research done but at some level you are dealing with a number of "orphan" drug/nutraceutical issues here as one kids autism is impacted by MTHFR mutation, another by COMT, another by paraoxonase, another by COMT dysfunction, etc. I will post a graphic to help unify the issues for those who are interested in just how complex this is.

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