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Treating Genetic Mutations in Autism

June 28, 2021


Genetic testing is the biggest medical advancement of the early 21st century. Our understanding of how genes play a role in brain function is advancing every year. While many children receive negative genetic tests for Fragile X syndrome, there are thousands upon thousands of genetic tests available. If you think you’ve exhausted genetic testing for your child, think again!

autism genetic mutations

One of the top five genetic mutations that we inherit is called MTHFR. This gene is abnormal and poorly functioning in approximately 50% of the US population. It is the most important gene for the production and formation of chemicals in the brain, such as serotonin, melatonin, and dopamine.

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Why do these chemicals matter? Because these are the chemicals of emotion. The chemicals of happiness, the chemicals of sleep, the chemicals of language, as well as healthy sensory and motor function. MTHFR genetic mutations cause deficiencies in serotonin, melatonin, and dopamine. This leads to anxiety, quick temper, poor sleep, and worsens sensory and processing function.

Let’s review how this works. You are what you eat. The brain creates these essential chemicals out of our proteins and vitamins. The vitamins that we get from our food need to be converted through a process called ‘methylation.’ Technically, this is an addition of a carbon atom, but think of an assembly line of a car. You take the frame, add the doors, lights, wheels, etc, and then you’ve completed production. Folic acid is converted into a methylated form called 5-MTHF also known as methyl-folate. Similarly, some of you may already be giving your children methyl-B12 shots.


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This activated folic acid, 5-MTHF, is used by the brain to create the chemicals serotonin, melatonin, and dopamine. Follow the path. If the inherited gene (MTHFR) isn’t working, the folic acid isn’t being converted to 5-MTHF, and the brain chemicals aren’t being created, and the symptoms present. Therefore, MTHFR gene mutations worsen anxiety, temper, sleep, learning and behavioral conditions. A 2013 meta-analysis of multiple research studies confirmed that children with autism have a higher likelihood of having inherited this gene mutation than neurotypical controls.1

Luckily, there’s a treatment! While many genetic mutations are untreatable, MTHFR mutations are 100% treatable. Similarly to methyl-B12, 5-MTHF is available as a supplement. Simply put, if the body can’t methylate folic acid to create serotonin, melatonin, and dopamine, you can give the supplement 5-MTHF to create serotonin, melatonin, and dopamine.

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What should you expect? First, 5-MTHF has no taste, which is helpful considering most children on the spectrum are picky eaters and can taste a supplement hidden in apple sauce or yogurt from a mile away. Secondly, when serotonin, melatonin, and dopamine increase from 5-MTHF supplementation, you should expect more language, more development, less anxiety, better transitions, more sleep, and even better comments from teachers and therapists.

The world of genetics is expanding. We understand there’s more genetics than just ‘Fragile X syndrome.’ Consider advanced genetic testing, consult your physician. If you are going to take biomedical supplements, take the activated forms, such as methyl-B12, 5-MTHF, and P5P (activated B6). Keep searching for a better answer.

  • Pu D, Shen Y, Wu J. Association between MTHFR gene polymorphisms and the risk of autism spectrum disorders: a meta-analysis. Autism 2013 Oct;6(5):384-92. doi: 10.1002/aur.1300.

This article was featured in Issue 36 – Managing School Stressors

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