What is an MTHFR mutation?
The 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 MTHFR mutations are very common with around 45% of the population with 1 copy.
The Role of MTHFR
The methylation pathway is responsible for many functions that include:
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Turn on and off genes (gene regulation)
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Process chemicals, endogenous and xenobiotic compounds (biotransformation)
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Build neurotransmitters (norepinephrine –> epinephrine, serotonin –> melatonin)
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Metabolize neurotransmitters (dopamine, epinephrine)
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Process hormones (estrogen)
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Build immune cells (T cells, NK cells)
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DNA and Histone Synthesis (Thymine aka 5-methyluracil)
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Produce energy (CoQ10, carnitine, creatine, ATP)
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Produce protective coating on nerves (myelination)
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Build and maintain cell membranes (phosphatidylcholine)
Possible
MTHFR Symptoms
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Brain fog
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Chronic fatigue
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Delayed speech
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Hand tremor
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Headaches
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Insomnia
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Irritable bowel
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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. You may want to consult with your primary care provider and discuss these factors
What does this mean for my child?
There is research to suggest a link between MTHFR mutation and the following:
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.
You can read the research here.
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Down Syndrome
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Heart disease
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IBS
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Migraines
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Rheumatoid Arthritis
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Turner Syndrome
Through the years Dr. Amber Brooks 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 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 the 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 found here.
Dr. Brooks, DC, MSN, CACCP, BCIP, RN 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.