Autism and Epigenetics: Why Addressing Mutations is Step 1 of Recovery

By Janna Champagne, RN, BSN + ASD parent
I talk with clients about the importance of epigenetics and nutrigenomics every day and often get the "wha???" response.  With a little explaining, the light bulb brightens until the realization hits.   Yes it's true, epigenetics are a major cause of many chronic illnesses, including Autism Spectrum Disorders (plus many other conditions) .
I consider nutrigenomics so important for recovering kids with ASD, that it's often the first tool I grab from my bag of tricks.  The following is my rationale for prioritizing nutrigenomics plus some bonus info on the subject.   Because I'm sweet like that😊
First, a couple of helpful definitions:
1. Epigenetics- environmental impact on gene expression (switches genes on and off)
While our genes are inherited and static (DNA doesn't change), every gene has an on and off switch that can be triggered by environmental factors.   This is a phenomenon known as epigenetics. University of Berkeley has been integral in researching and has published extensively on this subject.
2. Nutrigenomics is the term for genetically individualized supplementation used to offset the health-damaging results of epigenetic mutations.
Basically it's like the oil for your car.  Helps keep all the moving parts flowing as they should.   (It's really more of a chemical thing, but I'm a fan of car analogies)
3. Single Nucleotide Polymorphism (snp) is a fancy name for a gene.   Pronounced "snip" in conversation.
In referring to mutations:
Homozygous means inherited from both parents, (double=more severe impairment)
Heterozygous means inherited from only one parent (single=less severe impairment).
The most recognizable snp in regards to health impact is mthfr (methelenetetrahydrofolate reductase).   In this case mthfr isn't the abbreviation for a bad word, but if this mutation isn't offset, the "less PC" term is a fair description of the insult to ones health.   See, mnemonics work!
Mutation of mthfr is found in 70-80% of those with Autism. This mutation manifests as lack of an enzyme which impairs the body's ability to metabolize (break down and utilize) folic acid appropriately.  Ample folate is pretty important, so this is kind of a big deal.
Those with mthfr end up with folate deficiency, which results in lacking  critical components for several foundational chemical cycles.   Correct folate metabolism is required for production of neurotransmitters, detoxification (glutathione production), neuro development, immune balance, and the list goes on.  Bonus question: which epidemic childhood illness features these very deficiencies and imbalances?    You guessed it....Autism.
The severity of mthfr mutation impact varies.  Homozygous (double)  mutation causes an 80% impairment in folic acid metabolism, while heterozygous (single) is only 40% impairment (while less the impact is still significant). Offsetting mthfr mutation requires nutrigenomic supplementation, which entails matching individual gene mutations with the best nutrient formulations to fill the specific deficiency.  This ensures the body gets critical nutrients despite the missing chemical reaction links.
Mthfr is just one of several dozen Autism-applicable  snp's that are addressed through our nutrigenomics consulting process at Integrated Holistic Care.   The gene test kit costs $99 and uses saliva, which is collected at home and submitted by mail.   Easy peasy.
There's is a prioritization to therapeutic nutrigenomics, and mthfr is not the first snp on the list, so medical oversight by a knowledgeable practitioner is strongly advised. Our body is one system made of many moving parts, all of which work synergistically. The order snps are addressed is individual and based on which mutations are present, with consideration of all the moving parts and the body as a whole.
I chose to exemplify mthfr because it's the popular kid, the most readily recognized, and reputable information can be found here for those wishing to delve deeper: www.mthfrsupport.com  *Disclaimer: the information contained herein may cause overwhelm and anxiety.    No worries, a nurse specialized in nutrigenomics is standing by, and consult scheduling is just a click away!   www.integratedholisticcare.com/services
The take home message is that nutrigenomic interventions help slow or stop a major contributor of the imbalances and toxic build up causing symptoms of Autism. Once the foundational/causal issues are addressed, faster recovery from the collateral damage is facilitated.   Nutrigenomics helps halt the incoming toxins, and facilitates clearing  what's already built up.  For those with Autism, this is a necessary component to healing and the road to recovery.
Happy to answer questions😊.   Please share if you found this helpful.   Wishing you all a blessed New Year❤