Whole Child Wellness – Pediatric Care | Genetic Testing | Dallas TX

Genetic Testing


MTHFR Mutation Genetic testing Dr Amber Brooks

MTHFR Mutation


Through the years Dr. Amber Brooks, DC, CACCP has seen many issues in children and realized testing can find a potential causal link. There are many testing options that include blood, urine and stool. In addition to these genetic testing can be very useful. In the last several years Dr. Brooks, DC has seen many children test positive for the Methylenetetrahydrofolate Reductase (MTHFR) mutation and decided to dive in and help these families. She has additional training in Nutrigenomics from Dr. Ben Lynch, ND and sees a true value in knowing one’s genetics as they relate to ongoing lifestyle choices.

According to UC Davis, “Nutritional genomics, or nutrigenomics, is the study of how foods affect our genes and how individual genetic differences can affect the way we respond to nutrients (and other naturally occurring compounds) in the foods we eat. Nutrigenomics has received much attention recently because of its potential for preventing, mitigating, or aiding chronic disease. The conceptual basis for this new branch of genomic research can best be summarized by the following:

Five tenets of nutrigenomics:

  • Under certain circumstances and in some individuals, diet can be a serious risk factor for a number of diseases.
  • Common dietary chemicals can act on the human genome, either directly or indirectly, to alter gene expression or structure.
  • The degree to which diet influences the balance between healthy and disease states may depend on an individual’s genetic makeup.
  • Some diet-regulated genes (and their normal, common variants) are likely to play a role in the onset, incidence, progression, and/or severity of chronic diseases.
  • Dietary intervention based on knowledge of nutritional requirement, nutritional status, and genotype (i.e., “personalized nutrition“) can be used to prevent, mitigate or aid with chronic disease”(UC Davis).

Nutrigenomics Care and MTHFR

Dr. Brooks, DC, CACCP advocates for proper nutrition and early intervention and knows that testing is often the key to wellness, once you know what you are dealing with you can do something to help the body function optimally. Genetics cannot be “fixed” BUT we can support the system when we know where the broken link is and potentially prevent further damage.

What is an MTHFR mutation?

MTHFR Mutation TestingThe MTHFR (Methylenetetrahydrofolate Reductase) genetic mutation, or polymorphism was first discovered as a result of the human genome project. The C677T was found in 1995 and A1298C in 2001. People who have this mutation have an interruption in the “Methylation Pathway” and a reduced ability to process folic acid/folate into something their body can use. The methylation pathway is responsible for many function that include:

  1. Turn on and off genes (gene regulation)
  2. Process chemicals, endogenous and xenobiotic compounds (biotransformation)
  3. Build neurotransmitters (norepinephrine –> epinephrine, serotonin –> melatonin)
  4. Metabolize neurotransmitters (dopamine, epinephrine)
  5. Process hormones (estrogen)
  6. Build immune cells (T cells, NK cells)
  7. DNA and Histone Synthesis (Thymine aka 5-methyluracil)
  8. Produce energy (CoQ10, carnitine, creatine, ATP)
  9. Produce protective coating on nerves (myelination)
  10. Build and maintain cell membranes (phosphatidylcholine)

Is MTHFR common?

Yes, the MTHFR mutations are very common with around 45% of the population with 1 copy.

What Does This Mean?

There is research to suggest a link between MTHFR mutation and the following:

  • Autism
  • Cancer
  • Chronic fatigue syndrome
  • Depression
  • Down Syndrome

  • Heart disease
  • IBS
  • Migraines
  • Rheumatoid Arthritis
  • Turner Syndrome

You can read the research here.

Just because you have the mutation does not mean you will show symptoms or develop conditions associated with MTHFR. The genetics are only part of the story; one must factor in the environment. People with MTHFR have a reduced ability to eliminate toxins and heavy metals, so the cleaner their environment, the better. This also explains why two people can have the same mutation but not be affected equally. Supporting the pathways, taking the nutrients that cannot be made because of the missing enzyme as a supplement and changing your lifestyle can be implemented to work around the MTHFR mutation.

What are possible symptoms associated with MTHFR mutations?

  • Brain fog
  • Chronic fatigue
  • Delayed speech
  • Hand tremor

  • Headaches
  • Insomnia
  • Irritable bowel
  • Memory loss

If your child has these health issues, has tested positive for the MTHFR mutation or you are interested in being tested we urge you to get help. Call us today, we may be able to help you and/or make a proper referral.


Dr. Ben Lynch’s

UC Davis

Complimentary 20-minutes with Dr. Amber BrooksScientific Resources