SNPs and Autism

SNPs are single nucleotide polymorphisms. They are a part of our DNA. DNA contains all of our genes, and is made of 4 chemical bases, that pair up and make the “rungs” of the DNA molecule. A single nucleotide polymorphism, or SNP, is a variation in a single base pair in the genome. The variation happens when one of the pair is substituted for with a new base. This new base pair has a new set of instructions that may be slightly different from the original.

Low methylation means there is more RNA bases incorporated into the DNA. When these RNA bases have SNPs or mistakes then it changes the set of instructions that are read into making or repairing new DNA. The more frequent repair is required, the more often DNA is “read” and repaired resulting in impaired function.

The human genome has 10,000 SNPS. Many of the SNPs don’t make an impact on human health. Some SNPs account for differences such appearance, our response to drugs, disease formation, resistance to toxic and microbial exposure sand mental health.

We can’t CHANGE our DNA, but if we know your weak links, we can create “nutritional workarounds”, or put in what the set of instructions was supposed to get the body to make.

Many SNPs are not disease but SNPs do play a role in how your body will respond to disease or how it will heal from injury.  The more methylation defects, the greater is your susceptibility to toxicity and infection, and thus the greater will be your risk for disease (often times age related due to accumulation of toxins.

Some SNPs that have been implicated in autism include:

  • COMT
  • CBS
  • GST
  • PEMT
  • SLC 19A1
  • RFC-1
  • GRIK1

There are work arounds or nutritional support to allow the repair and instruction to occur in a more optimum manner.

These nutritional work arounds may include:

Methyl B12 injections

Has your child benefitted from B12 injections? Research with methyl-B12 injections shows, 92% of children respond to injection therapy. Research from the Arkansas Children’s Research Institute has shown that methyl B12, when injected helps to support methylation and production of glutathione. If your child has benefited, make sure to read through the other supports listed below. If your child has NOT benefited after trying B12 injections, the three most common reasons are elevated levels of heavy metals, the wrong diet and/or low level viral infection.


The diet that best supports the methylation cycle is the “paleo” diet. Meat, vegetables, fruit, nuts and seeds.  Meat should be hormone and antibiotic free.  Vegetables and fruit should be organic whenever possible.  The methylation cycle helps the body detoxify harmful chemicals like PCBs found in pesticides.  Reducing the body’s overall toxic load help to repair the methylation cycle.  Grains are fortified with synthetic folic acid.  Folic acid sounds important to the folate cycle, doesn’t it?  The problem is that children diagnosed with autism often (40-70% of the time) have trouble converting synthetic folic acid to methyl folate which is needed to “spin” the methylation wheel and help to make glutathione.

Most biomedical parents would agree that one of the hardest parts of treatment is “the diet”. Take population of kids who have sensory issues around food, and add in dysregulated dopamine which contributes to food addiction.  Now try to remove foods that children are using to help calm an overly stressed brain.  The problem with carbohydrates, dairy and sugar are that they help kids feel good, but it is short term and short lived… leading to the next craving cycle.  It is crucial to interrupt this cycle that is toxic to the brain.  Many studies have shown that carbohydrate restriction helps improve brain function.  Ask Dr. Perlmutter, author of Grain Brain, if you don’t believe me!  So… why NO GRAINS!!!!????   Grains are fortified with synthetic folic acid which dramatically slows down the brains ability to heal from damage or inflammation.


Glutathione is the body’s master antioxidant. Depletion of up to 80% has been linked to ASD.  One of the most important jobs of the methylation cycle is to produce glutathione which detoxifies metals, chemicals and hormones.  Glutathione is needed to protect the brain from toxicity and is, in fact, the rate limiting step to a child’s development.  A child’s brain can only develop as far as their glutathione will take them.

Methyl folate and folinic acid

If you picture the folate cycle, snuggled up to the methylation cycle, you can imagine that any influx of methyl donors could be beneficial. Adding additional methyl folate to a child’s treatment protocol helps in a number of different ways.   The methyl group from methyl folate is given to SAMe, whose job it is to deliver methyl to 200 essential pathways in the body.  Methyl folate is also very important in treating children who have been diagnosed with Cerebral Folate Deficiency, a cause of autism spectrum disorder and seizures.


SAMe is what I like to call a worker bee. After receiving methyl donors, SAMe delivers methyl to 200 pathways in the body including ones needed to make carnitine, creatine and phosphotidylcholine. Low carnitine levels have been identified in children diagnosed with autism.  Carnitine supplementation improves delivery of omega 3 & 6 fatty acids needed to support language, social and cognitive development.  Phosphatidylcholine is important in cell membrane health and repair.  Toxins can damage the cell membrane, which contributes to inflammation as it is broken down.  Repair of the cell membrane is an important part of improving sensory issues and motor planning issues in children with autism, ADHD and sensory integration disorder.


Dimethylglycine (DMG) and trimethylglycine (TMG) donate methyl groups to the methylation cycle. TMG is needed to recycle homocysteine and help produce SAMe.  If DMG is beneficial for your child, note that long term use will slow methylation.  After a period of DMG supplementation, it is important to start using TMG and SAMe to optimize this vital cycle needed for neurological health.



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Feb 2016HGM 2016 Translational Genomics

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